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Article ; Online: AMD and the alternative complement pathway: genetics and functional implications.

Tan, Perciliz L / Bowes Rickman, Catherine / Katsanis, Nicholas

Human genomics

2016 Volume 10, Issue 1, Page(s) 23

Abstract: Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD is characterized ...

Abstract	Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD is characterized by the progressive breakdown of the macula (the central region of the retina), resulting in the loss of central vision including visual acuity. While its molecular etiology remains unclear, advances in genetics and genomics have illuminated the genetic architecture of the disease and have generated attractive pathomechanistic hypotheses. Here, we review the genetic architecture of AMD, considering the contribution of both common and rare alleles to susceptibility, and we explore the possible mechanistic links between photoreceptor degeneration and the alternative complement pathway, a cascade that has emerged as the most potent genetic driver of this disorder.
Language	English
Publishing date	2016-06-21
Publishing country	England
Document type	Journal Article ; Review
ISSN	1479-7364
ISSN (online)	1479-7364
DOI	10.1186/s40246-016-0079-x
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Article ; Online: Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.

Tsai, I-Chun / Adams, Kevin A / Tzeng, Joyce A / Shennib, Omar / Tan, Perciliz L / Katsanis, Nicholas

JCI insight

2019 Volume 4, Issue 22

Abstract: The ciliopathies are a group of phenotypically overlapping disorders caused by structural or functional defects in the primary cilium. Although disruption of numerous signaling pathways and cellular trafficking events have been implicated in ciliary ... ...

Abstract	The ciliopathies are a group of phenotypically overlapping disorders caused by structural or functional defects in the primary cilium. Although disruption of numerous signaling pathways and cellular trafficking events have been implicated in ciliary pathology, treatment options for affected individuals remain limited. Here, we performed a genome-wide RNAi (RNA interference) screen to identify genetic suppressors of BBS4, one of the genes mutated in Bardet-Biedl syndrome (BBS). We discovered 10 genes that, when silenced, ameliorate BBS4-dependent pathology. One of these encodes USP35, a negative regulator of the ubiquitin proteasome system, suggesting that inhibition of a deubiquitinase, and subsequent facilitation of the clearance of signaling components, might ameliorate BBS-relevant phenotypes. Testing of this hypothesis in transient and stable zebrafish genetic models showed this posit to be true; suppression or ablation of usp35 ameliorated hallmark ciliopathy defects including impaired convergent extension (CE), renal tubule convolution, and retinal degeneration with concomitant clearance of effectors such as β-catenin and rhodopsin. Together, our findings reinforce a direct link between proteasome-dependent degradation and ciliopathies and suggest that augmentation of this system might offer a rational path to novel therapeutic modalities.
MeSH term(s)	Animals ; Bardet-Biedl Syndrome/drug therapy ; Bardet-Biedl Syndrome/genetics ; CRISPR-Cas Systems/genetics ; Cell Line ; Cilia/genetics ; Ciliopathies/genetics ; Endopeptidases/genetics ; Genetic Techniques ; Humans ; Microtubule-Associated Proteins/genetics ; Phenotype ; Retinal Degeneration/genetics ; Ubiquitin-Specific Proteases/genetics ; Wnt Signaling Pathway/genetics ; Zebrafish ; Zebrafish Proteins/genetics
Chemical Substances	BBS4 protein, human ; Microtubule-Associated Proteins ; Zebrafish Proteins ; Endopeptidases (EC 3.4.-) ; USP35 protein, human (EC 3.4.-) ; USP38 protein, human (EC 3.4.19.12) ; Ubiquitin-Specific Proteases (EC 3.4.19.12)
Language	English
Publishing date	2019-11-14
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	2379-3708
ISSN (online)	2379-3708
DOI	10.1172/jci.insight.130516
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Article ; Online: Thermosensory and mechanosensory perception in human genetic disease.

Tan, Perciliz L / Katsanis, Nicholas

Human molecular genetics

2009 Volume 18, Issue R2, Page(s) R146–55

Abstract: Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli through the use of a broad array of receptors and downstream effector molecules. Studies of human ... ...

Abstract	Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli through the use of a broad array of receptors and downstream effector molecules. Studies of human genetic disorders, as well as mouse and other animal models, have identified some of the key molecules necessary for peripheral innervation and function. These findings have, in turn, yielded new insights into the developmental networks and homeostatic mechanisms necessary for the transformation of external stimuli into interpretable electrical impulses. In this review, we will summarize and discuss some of the genes/proteins implicated in two particular aspects of sensory perception, thermosensation and mechanosensation, highlighting pathways whose perturbation leads to both isolated and syndromic sensory deficits.
MeSH term(s)	Animals ; Genetic Diseases, Inborn/physiopathology ; Humans ; Mechanotransduction, Cellular/physiology ; Neurogenesis ; Perception/physiology ; Temperature ; Transient Receptor Potential Channels/genetics ; Transient Receptor Potential Channels/metabolism
Chemical Substances	Transient Receptor Potential Channels
Language	English
Publishing date	2009-10-06
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddp412
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Article ; Online: Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Tan, Perciliz L / Garrett, Melanie E / Willer, Jason R / Campochiaro, Peter A / Campochiaro, Betsy / Zack, Donald J / Ashley-Koch, Allison E / Katsanis, Nicholas

Investigative ophthalmology & visual science

2017 Volume 58, Issue 3, Page(s) 1570–1576

Abstract: Purpose: Genome-wide association (GWAS) and sequencing studies for AMD have highlighted the importance of coding variants at loci that encode components of the complement pathway. However, assessing the contribution of such alleles to AMD, especially ... ...

Abstract	Purpose: Genome-wide association (GWAS) and sequencing studies for AMD have highlighted the importance of coding variants at loci that encode components of the complement pathway. However, assessing the contribution of such alleles to AMD, especially when they are rare, remains coarse, in part because of the persistent challenge in establishing their functional relevance. Others and we have shown previously that rare alleles in complement factor I (CFI) can be tested functionally using a surrogate in vivo assay of retinal vascularization in zebrafish embryos. Here, we have implemented and scaled these tools to assess the overall contribution of rare alleles in CFI to AMD. Methods: We performed targeted sequencing of CFI in 731 AMD patients, followed by replication in a second patient cohort of 511 older healthy individuals. Systematic functional testing of all alleles and post-hoc statistical analysis of functional variants was also performed. Results: We discovered 20 rare coding nonsynonymous variants, including the previously reported G119R allele. In vivo testing led to the identification of nine variants that alter CFI; six of which are associated with hypoactive complement factor I (FI). Post-hoc analysis in ethnically matched, population controls showed six of these to be present exclusively in cases. Conclusions: Taken together, our data argue that multiple rare and ultra-rare alleles in CFI contribute to AMD pathogenesis; they improve the precision of the assessment of the contribution of CFI to AMD; and they offer a rational route to establishing both causality and direction of allele effect for genes associated with this disorder.
MeSH term(s)	Aged ; Aged, 80 and over ; Alleles ; Animals ; Complement Factor I/genetics ; Complement Factor I/metabolism ; DNA/genetics ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study/methods ; Genotype ; Humans ; Macular Degeneration/diagnosis ; Macular Degeneration/genetics ; Macular Degeneration/metabolism ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Zebrafish/embryology
Chemical Substances	DNA (9007-49-2) ; Complement Factor I (EC 3.4.21.45)
Language	English
Publishing date	2017--01
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.16-20867
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Article ; Online: Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

I-Chun Tsai / Kelly McKnight / Spencer U. McKinstry / Andrew T. Maynard / Perciliz L. Tan / Christelle Golzio / C. Thomas White / Daniel J. Price / Erica E. Davis / Heather Amrine-Madsen / Nicholas Katsanis

Scientific Reports, Vol 8, Iss 1, Pp 1-

2018 Volume 12

Abstract: Abstract Kabuki Syndrome (KS) is a rare disorder characterized by distinctive facial features, short stature, skeletal abnormalities, and neurodevelopmental deficits. Previously, we showed that loss of function of RAP1A, a RAF1 regulator, can activate ... ...

Abstract	Abstract Kabuki Syndrome (KS) is a rare disorder characterized by distinctive facial features, short stature, skeletal abnormalities, and neurodevelopmental deficits. Previously, we showed that loss of function of RAP1A, a RAF1 regulator, can activate the RAS/MAPK pathway and cause KS, an observation recapitulated in other genetic models of the disorder. These data suggested that suppression of this signaling cascade might be of therapeutic benefit for some features of KS. To pursue this possibility, we performed a focused small molecule screen of a series of RAS/MAPK pathway inhibitors, where we tested their ability to rescue disease-relevant phenotypes in a zebrafish model of the most common KS locus, kmt2d. Consistent with a pathway-driven screening paradigm, two of 27 compounds showed reproducible rescue of early developmental pathologies. Further analyses showed that one compound, desmethyl-Dabrafenib (dmDf), induced no overt pathologies in zebrafish embryos but could rescue MEK hyperactivation in vivo and, concomitantly, structural KS-relevant phenotypes in all KS zebrafish models (kmt2d, kmd6a and rap1). Mass spectrometry quantitation suggested that a 100 nM dose resulted in sub-nanomolar exposure of this inhibitor and was sufficient to rescue both mandibular and neurodevelopmental defects. Crucially, germline kmt2d mutants recapitulated the gastrulation movement defects, micrognathia and neurogenesis phenotypes of transient models; treatment with dmDf ameliorated all of them significantly. Taken together, our data reinforce a causal link between MEK hyperactivation and KS and suggest that chemical suppression of BRAF might be of potential clinical utility for some features of this disorder.
Keywords	Medicine ; R ; Science ; Q
Subject code	572
Language	English
Publishing date	2018-07-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome.

Tsai, I-Chun / McKnight, Kelly / McKinstry, Spencer U / Maynard, Andrew T / Tan, Perciliz L / Golzio, Christelle / White, C Thomas / Price, Daniel J / Davis, Erica E / Amrine-Madsen, Heather / Katsanis, Nicholas

Scientific reports

2018 Volume 8, Issue 1, Page(s) 10779

Abstract: Kabuki Syndrome (KS) is a rare disorder characterized by distinctive facial features, short stature, skeletal abnormalities, and neurodevelopmental deficits. Previously, we showed that loss of function of RAP1A, a RAF1 regulator, can activate the RAS/ ... ...

Abstract	Kabuki Syndrome (KS) is a rare disorder characterized by distinctive facial features, short stature, skeletal abnormalities, and neurodevelopmental deficits. Previously, we showed that loss of function of RAP1A, a RAF1 regulator, can activate the RAS/MAPK pathway and cause KS, an observation recapitulated in other genetic models of the disorder. These data suggested that suppression of this signaling cascade might be of therapeutic benefit for some features of KS. To pursue this possibility, we performed a focused small molecule screen of a series of RAS/MAPK pathway inhibitors, where we tested their ability to rescue disease-relevant phenotypes in a zebrafish model of the most common KS locus, kmt2d. Consistent with a pathway-driven screening paradigm, two of 27 compounds showed reproducible rescue of early developmental pathologies. Further analyses showed that one compound, desmethyl-Dabrafenib (dmDf), induced no overt pathologies in zebrafish embryos but could rescue MEK hyperactivation in vivo and, concomitantly, structural KS-relevant phenotypes in all KS zebrafish models (kmt2d, kmd6a and rap1). Mass spectrometry quantitation suggested that a 100 nM dose resulted in sub-nanomolar exposure of this inhibitor and was sufficient to rescue both mandibular and neurodevelopmental defects. Crucially, germline kmt2d mutants recapitulated the gastrulation movement defects, micrognathia and neurogenesis phenotypes of transient models; treatment with dmDf ameliorated all of them significantly. Taken together, our data reinforce a causal link between MEK hyperactivation and KS and suggest that chemical suppression of BRAF might be of potential clinical utility for some features of this disorder.
MeSH term(s)	Abnormalities, Multiple/pathology ; Abnormalities, Multiple/prevention & control ; Animals ; Craniofacial Abnormalities/prevention & control ; Face/abnormalities ; Face/pathology ; Hematologic Diseases/pathology ; Hematologic Diseases/prevention & control ; Imidazoles/adverse effects ; Imidazoles/chemistry ; Imidazoles/pharmacology ; Jaw Abnormalities/prevention & control ; MAP Kinase Signaling System ; Oximes/adverse effects ; Oximes/chemistry ; Oximes/pharmacology ; Protein Kinase Inhibitors/pharmacology ; Proto-Oncogene Proteins p21(ras)/metabolism ; Toxicity Tests ; Vestibular Diseases/pathology ; Vestibular Diseases/prevention & control ; Zebrafish/embryology ; Zebrafish/genetics ; Zebrafish/growth & development
Chemical Substances	Imidazoles ; Oximes ; Protein Kinase Inhibitors ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2) ; dabrafenib (QGP4HA4G1B)
Language	English
Publishing date	2018-07-17
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-018-28709-y
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Article ; Online: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Borck, Guntram / Hög, Friederike / Dentici, Maria Lisa / Tan, Perciliz L / Sowada, Nadine / Medeira, Ana / Gueneau, Lucie / Holger, Thiele / Kousi, Maria / Lepri, Francesca / Wenzeck, Larissa / Blumenthal, Ian / Radicioni, Antonio / Schwarzenberg, Tito Livio / Mandriani, Barbara / Fischetto, Rita / Morris-Rosendahl, Deborah J / Altmüller, Janine / Reymond, Alexandre /

Nünberg, Peter / Merla, Giuseppe / Dallapiccola, Bruno / Katsanis, Nicholas / Cramer, Patrick / Kubisch, Christian

Genome research

2015 Volume 25, Issue 4, Page(s) 609

Language	English
Publishing date	2015-04
Publishing country	United States
Document type	Published Erratum
ZDB-ID	1284872-4
ISSN	1549-5469 ; 1088-9051 ; 1054-9803
ISSN (online)	1549-5469
ISSN	1088-9051 ; 1054-9803
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Zs.A 3729: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

Esteve, Clothilde / Francescatto, Ludmila / Tan, Perciliz L / Bourchany, Aurélie / De Leusse, Cécile / Marinier, Evelyne / Blanchard, Arnaud / Bourgeois, Patrice / Brochier-Armanet, Céline / Bruel, Ange-Line / Delarue, Arnauld / Duffourd, Yannis / Ecochard-Dugelay, Emmanuelle / Hery, Géraldine / Huet, Frédéric / Gauchez, Philippe / Gonzales, Emmanuel / Guettier-Bouttier, Catherine / Komuta, Mina /

Lacoste, Caroline / Maudinas, Raphaelle / Mazodier, Karin / Rimet, Yves / Rivière, Jean-Baptiste / Roquelaure, Bertrand / Sigaudy, Sabine / Stephenne, Xavier / Thauvin-Robinet, Christel / Thevenon, Julien / Sarles, Jacques / Levy, Nicolas / Badens, Catherine / Goulet, Olivier / Hugot, Jean-Pierre / Katsanis, Nicholas / Faivre, Laurence / Fabre, Alexandre

American journal of human genetics

2018 Volume 102, Issue 3, Page(s) 364–374

Abstract: Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, ...

Abstract	Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.
MeSH term(s)	Adolescent ; Animals ; Bone and Bones/pathology ; Child, Preschool ; Cholestasis/genetics ; Diarrhea/genetics ; Diarrhea/physiopathology ; Family ; Female ; Fibroblasts/pathology ; Gastrointestinal Motility ; Hearing Loss/genetics ; Humans ; Infant, Newborn ; Intracellular Signaling Peptides and Proteins/genetics ; Loss of Function Mutation/genetics ; Lymphocytes/pathology ; Male ; Pedigree ; Phenotype ; Syndrome ; Young Adult ; Zebrafish
Chemical Substances	Intracellular Signaling Peptides and Proteins ; UNC45A protein, human
Language	English
Publishing date	2018-02-08
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2018.01.009
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Article: Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?

Toma, Hassanain S / Tan, Perciliz L / McKusick, Victor A / Katsanis, Nicholas / Adams, N A

Ophthalmic genetics

2007 Volume 28, Issue 2, Page(s) 95–99

Abstract: Bardet-Biedl Syndrome (BBS) is a multisystemic disorder diagnosed on the basis of a combination of primary and secondary clinical features that include retinal dystrophy, obesity, polydactyly, cognitive dysfunction, and renal malformations. We report a ... ...

Abstract	Bardet-Biedl Syndrome (BBS) is a multisystemic disorder diagnosed on the basis of a combination of primary and secondary clinical features that include retinal dystrophy, obesity, polydactyly, cognitive dysfunction, and renal malformations. We report a unique case of BBS in a 13-year old girl of African-American descent who presented with retinitis pigmentosa, obesity, polydactyly, learning disabilities, precocious puberty, hypertension, renal cysts, and Hirschprung disease. Further evaluation revealed a history of precocious puberty, which is antithetical to the common manifestations of BBS, while neuroimaging was suggestive of periventricular leukomalacia and neuro-electrophysiologic studies revealed diffuse cerebral disturbance, which may contribute to her neurological abnormalities. The patient was also diagnosed with hydrometrocolpos, a finding typical of McKusick-Kaufman Syndrome (MKKS) but infrequent in other disorders. This observation, together with recent findings in some mouse models of BBS, raises the question of whether hydrometrocolpos should be considered as an additional diagnostic criterion for BBS to be used in females in parallel to the criterion of hypogonadism in males, thereby improving diagnostic sensitivity.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; African Americans ; Bardet-Biedl Syndrome/complications ; Bardet-Biedl Syndrome/diagnosis ; Bardet-Biedl Syndrome/genetics ; Female ; Humans ; Hydrocolpos/diagnosis ; Magnetic Resonance Imaging ; Polydactyly
Language	English
Publishing date	2007-06
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1199279-7
ISSN	1744-5094 ; 1381-6810 ; 0167-6784
ISSN (online)	1744-5094
ISSN	1381-6810 ; 0167-6784
DOI	10.1080/13816810701209545
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Article ; Online: RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

American journal of human genetics

2017 Volume 101, Issue 3, Page(s) 466–477

Abstract: RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with ... ...

Abstract	RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c.470G>A (p.Cys157Tyr) variants, were microcephalic, with head circumferences between -2.5 to -5 SD. In contrast, two individuals with c.151G>A (p.Val51Met) and c.151G>C (p.Val51Leu) alleles were macrocephalic with head circumferences of +4.16 and +4.5 SD. One individual harboring a c.190T>G (p.Tyr64Asp) allele had head circumference in the normal range. Collectively, we observed an extraordinary spread of ∼10 SD of head circumferences orchestrated by distinct mutations in the same gene. In silico modeling, mouse fibroblasts spreading assays, and in vivo overexpression assays using zebrafish as a surrogate model demonstrated that the p.Cys18Tyr and p.Asn39Ser RAC1 variants function as dominant-negative alleles and result in microcephaly, reduced neuronal proliferation, and cerebellar abnormalities in vivo. Conversely, the p.Tyr64Asp substitution is constitutively active. The remaining mutations are probably weakly dominant negative or their effects are context dependent. These findings highlight the importance of RAC1 in neuronal development. Along with TRIO and HACE1, a sub-category of rare developmental disorders is emerging with RAC1 as the central player. We show that ultra-rare disorders caused by private, non-recurrent missense mutations that result in varying phenotypes are challenging to dissect, but can be delineated through focused international collaboration.
MeSH term(s)	Adolescent ; Amino Acid Sequence ; Animals ; Brain Diseases/genetics ; Brain Diseases/pathology ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Embryo, Nonmammalian/metabolism ; Embryo, Nonmammalian/pathology ; Female ; Humans ; Infant ; Male ; Mice ; Microcephaly/genetics ; Microcephaly/pathology ; Mutation, Missense ; Pedigree ; Phenotype ; Zebrafish/genetics ; Zebrafish/growth & development ; rac1 GTP-Binding Protein/genetics
Chemical Substances	RAC1 protein, human ; rac1 GTP-Binding Protein (EC 3.6.5.2)
Language	English
Publishing date	2017-08-31
Publishing country	United States
Document type	Journal Article
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2017.08.007
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