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Article ; Online: A complex

Chimenes, Natielly D / Caramalac, Silvana M / Caramalac, Simone M / Fernandes, Thiago D / Basso, Roberta M / Cerri, Fabrício M / Oliveira-Filho, José P / Borges, Alexandre S / Palumbo, Mariana I P

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc

2023 Volume 35, Issue 4, Page(s) 413–416

Abstract: Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in ... ...

Abstract	Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the
MeSH term(s)	Animals ; Dogs ; Male ; Chloride Channels/genetics ; Chloride Channels/metabolism ; Dog Diseases/diagnosis ; Dog Diseases/genetics ; Exons ; Mutation ; Myotonia/genetics ; Myotonia/veterinary ; Myotonia Congenita/diagnosis ; Myotonia Congenita/genetics ; Myotonia Congenita/veterinary
Chemical Substances	Chloride Channels
Language	English
Publishing date	2023-05-22
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	287603-6
ISSN	1943-4936 ; 1040-6387
ISSN (online)	1943-4936
ISSN	1040-6387
DOI	10.1177/10406387231176736
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Article ; Online: A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog

Chimenes, Natielly D. / Caramalac, Silvana M. / Caramalac, Simone M. / Fernandes, Thiago D. / Basso, Roberta M. / Cerri, Fabrício M. / Oliveira-Filho, José P. / Borges, Alexandre S. / Palumbo, Mariana I. P.

Journal of Veterinary Diagnostic Investigation. 2023 July, v. 35, no. 4 p.413-416

2023

Abstract: Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood ... ...

Abstract	Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via amplification of the 23 exons encoding CLCN1. After sequencing the CLCN1 gene, a complex variant was found in exon 6 c.[705T>G; 708del; 712_732del], resulting in a premature stop codon in exon 7 and a protein that was 717 amino acids shorter than the normal CLC protein. The myotonic dog was identified as homozygous recessive for the complex CLCN1 variant; its parents were heterozygous, and its male littermate was homozygous wild-type. Knowledge of the CLCN1 mutations responsible for the development of hereditary myotonia allows greater clarification of this condition.
Keywords	blood ; dogs ; electromyography ; exons ; heterozygosity ; homozygosity ; males ; mixed breeds ; muscles ; mutation ; stop codon ; chloride channel ; genetic analyses ; hereditary ; myopathy
Language	English
Dates of publication	2023-07
Size	p. 413-416.
Publishing place	SAGE Publications
Document type	Article ; Online
ZDB-ID	287603-6
ISSN	1943-4936 ; 1040-6387
ISSN (online)	1943-4936
ISSN	1040-6387
DOI	10.1177/10406387231176736
Database	NAL-Catalogue (AGRICOLA)

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Article: Aggrecan, IL-1β, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism.

Basso, Roberta M / Andrade, Danilo G A / Alves, Carlos E F / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, Jose P

Journal of equine veterinary science

2021 Volume 103, Page(s) 103643

Abstract: Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan ( ... ...

Abstract	Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan (ACAN) gene. The aim of this study was to evaluate the expression of aggrecan (at the gene and protein level) and specific cytokines (IL-1β, IL-6, and TNF-α) in the articular cartilage of Miniature horses with chondrodysplastic dwarfism (D4/c.6465A > T genotype). Metatarsal bone samples from eight dwarf Miniature horses were collected for histopathological analysis, and articular cartilage was collected to detect and quantify aggrecan levels through Western blotting and determine the relative expression levels of ACAN, IL-1β, IL-6, and TNF-α through qPCR. All affected animals presented chondrodysplasia-like lesions with disorganization of the chondrocyte layers and reduced the amount of an extracellular matrix. No significant difference in aggrecan expression levels in uncleaved samples from the dwarf and control groups (composed of phenotypically normal animals of similar age and breed (P = .7143)) was found using Western blotting. qPCR revealed that ACAN gene expression was higher in the affected animals than in normal animals (P = .0119). No significant difference in cytokine levels was detected between the groups. Mutant aggrecan may interfere with normal cellular function, leading to chondrodysplasia and the observed phenotypic findings.
MeSH term(s)	Aggrecans/genetics ; Animals ; Cartilage, Articular ; Dwarfism/genetics ; Dwarfism/veterinary ; Horse Diseases/genetics ; Horses ; Interleukin-6/genetics ; Tumor Necrosis Factor-alpha/genetics
Chemical Substances	Aggrecans ; Interleukin-6 ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2021-04-30
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2102631-2
ISSN	1542-7412 ; 0737-0806
ISSN (online)	1542-7412
ISSN	0737-0806
DOI	10.1016/j.jevs.2021.103643
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Article: Aggrecan, IL-1β, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism

Basso, Roberta M / Andrade, Danilo G.A / Alves, Carlos E.F / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, Jose P

Journal of equine veterinary science. 2021 Aug., v. 103

2021

Abstract	Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan (ACAN) gene. The aim of this study was to evaluate the expression of aggrecan (at the gene and protein level) and specific cytokines (IL-1β, IL-6, and TNF-α) in the articular cartilage of Miniature horses with chondrodysplastic dwarfism (D4/c.6465A > T genotype). Metatarsal bone samples from eight dwarf Miniature horses were collected for histopathological analysis, and articular cartilage was collected to detect and quantify aggrecan levels through Western blotting and determine the relative expression levels of ACAN, IL-1β, IL-6, and TNF-α through qPCR. All affected animals presented chondrodysplasia-like lesions with disorganization of the chondrocyte layers and reduced the amount of an extracellular matrix. No significant difference in aggrecan expression levels in uncleaved samples from the dwarf and control groups (composed of phenotypically normal animals of similar age and breed (P = .7143)) was found using Western blotting. qPCR revealed that ACAN gene expression was higher in the affected animals than in normal animals (P = .0119). No significant difference in cytokine levels was detected between the groups. Mutant aggrecan may interfere with normal cellular function, leading to chondrodysplasia and the observed phenotypic findings.
Keywords	cartilage ; dwarfing ; extracellular matrix ; gene expression ; genes ; genotype ; histopathology ; horses ; interleukin-6 ; mutants ; phenotype ; protein content ; veterinary medicine
Language	English
Dates of publication	2021-08
Publishing place	Elsevier Inc.
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	2102631-2
ISSN	1542-7412 ; 0737-0806
ISSN (online)	1542-7412
ISSN	0737-0806
DOI	10.1016/j.jevs.2021.103643
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Effects of dietary copper and zinc hydroxychloride supplementation on bone development, skin quality and hematological parameters of broilers chickens

dos Santos, Tatiane S. / Augusto, Karolina V. Z. / Han, Yanming / Sartori, Maria M. P. / Batistioli, Julianna S. / Contin Neto, Armando C. / Ferreira Netto, Raimundo G. / Zanetti, Leonardo H. / Pasquali, Guilherme A. M. / Muro, Everton M. / Araujo, Robert G. A. C. / Basso, Roberta M. / Guimarães, Victor Y. / Takahira, Regina K. / Kim, Woo K. / Sartori, José R.

Journal of Animal Physiology and Animal Nutrition. 2023 Sept., v. 107, no. 5 p.1241-1250

2023

Abstract: This study was carried out to evaluate the effects of supplementation with different levels of copper (Cu) and zinc (Zn), using two mineral sources (sulphate and hydroxy forms), on the bone characteristics, skin strength/elasticity, and haematological ... ...

Abstract	This study was carried out to evaluate the effects of supplementation with different levels of copper (Cu) and zinc (Zn), using two mineral sources (sulphate and hydroxy forms), on the bone characteristics, skin strength/elasticity, and haematological parameters of broilers. A total of 1792 1‐day‐old male Cobb‐500 broiler chickens were randomly distributed among eight dietary treatments, using Cu sulphate (CSM) or hydroxychloride (CHC), and Zn sulphate (ZSM) or hydroxychloride (ZHC). The dietary treatments were as follows: (1) low‐CSM/high‐ZSM, (2) high‐CSM/high‐ZSM, (3) low‐CHC/low‐ZHC, (4) low‐CHC/medium‐ZHC, (5) low‐CHC/high‐ZHC, (6) high‐CHC/low‐ZHC, (7) high‐CHC/medium‐ZHC, and (8) high‐CHC/high‐ZHC. On Day 42, blood samples were collected from one bird/pen to analyze the haematological parameters. Finally, two birds/pen were slaughtered, and the tibia and femur were collected to analyze the quality of bone and skin. The means were subjected to ANOVA and, when significant, compared by Tukey's test (p < 0.05) or Dunnett's (p < 0.05) test. The haematological parameters were not influenced by mineral supplementation. However, the inclusion of low ZHC enhanced the skin strength compared to high ZHC (p = 0.046). Furthermore, the bone mineral density of the tibia proximal epiphysis, tibia ash and tibia mineral content were positively improved with supplementation of low‐CHC/medium‐ZHC compared to high‐CHC/medium‐ZHC. This study demonstrated that hydroxy compounds are potential alternatives for replacing sulphate supplements in broiler diets. Moreover, among the Cu and Zn levels, the low CHC (15 mg/kg) and medium ZHC (100 mg/kg) improved bone development and skin integrity, suggesting that the combination of Cu and Zn can be a nutritional strategy to prevent the incidence of leg disorders in broilers.
Keywords	animal nutrition ; birds ; blood ; bone density ; copper ; epiphyses ; femur ; males ; mineral content ; skeletal development ; sulfates ; tibia ; zinc
Language	English
Dates of publication	2023-09
Size	p. 1241-1250.
Publishing place	John Wiley & Sons, Ltd
Document type	Article ; Online
Note	JOURNAL ARTICLE
ZDB-ID	232729-6
ISSN	0931-2439
ISSN	0931-2439
DOI	10.1111/jpn.13829
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Effects of dietary copper and zinc hydroxychloride supplementation on bone development, skin quality and hematological parameters of broilers chickens.

Dos Santos, Tatiane S / Augusto, Karolina V Z / Han, Yanming / Sartori, Maria M P / Batistioli, Julianna S / Contin Neto, Armando C / Ferreira Netto, Raimundo G / Zanetti, Leonardo H / Pasquali, Guilherme A M / Muro, Everton M / Araujo, Robert G A C / Basso, Roberta M / Guimarães, Victor Y / Takahira, Regina K / Kim, Woo K / Sartori, José R

Journal of animal physiology and animal nutrition

2023 Volume 107, Issue 5, Page(s) 1241–1250

Abstract	This study was carried out to evaluate the effects of supplementation with different levels of copper (Cu) and zinc (Zn), using two mineral sources (sulphate and hydroxy forms), on the bone characteristics, skin strength/elasticity, and haematological parameters of broilers. A total of 1792 1-day-old male Cobb-500 broiler chickens were randomly distributed among eight dietary treatments, using Cu sulphate (CSM) or hydroxychloride (CHC), and Zn sulphate (ZSM) or hydroxychloride (ZHC). The dietary treatments were as follows: (1) low-CSM/high-ZSM, (2) high-CSM/high-ZSM, (3) low-CHC/low-ZHC, (4) low-CHC/medium-ZHC, (5) low-CHC/high-ZHC, (6) high-CHC/low-ZHC, (7) high-CHC/medium-ZHC, and (8) high-CHC/high-ZHC. On Day 42, blood samples were collected from one bird/pen to analyze the haematological parameters. Finally, two birds/pen were slaughtered, and the tibia and femur were collected to analyze the quality of bone and skin. The means were subjected to ANOVA and, when significant, compared by Tukey's test (p < 0.05) or Dunnett's (p < 0.05) test. The haematological parameters were not influenced by mineral supplementation. However, the inclusion of low ZHC enhanced the skin strength compared to high ZHC (p = 0.046). Furthermore, the bone mineral density of the tibia proximal epiphysis, tibia ash and tibia mineral content were positively improved with supplementation of low-CHC/medium-ZHC compared to high-CHC/medium-ZHC. This study demonstrated that hydroxy compounds are potential alternatives for replacing sulphate supplements in broiler diets. Moreover, among the Cu and Zn levels, the low CHC (15 mg/kg) and medium ZHC (100 mg/kg) improved bone development and skin integrity, suggesting that the combination of Cu and Zn can be a nutritional strategy to prevent the incidence of leg disorders in broilers.
MeSH term(s)	Animals ; Male ; Animal Feed/analysis ; Chickens ; Copper/pharmacology ; Diet/veterinary ; Dietary Supplements ; Manganese ; Minerals ; Sulfates ; Trace Elements ; Zinc/pharmacology
Chemical Substances	Copper (789U1901C5) ; Manganese (42Z2K6ZL8P) ; Minerals ; Sulfates ; Trace Elements ; Zinc (J41CSQ7QDS)
Language	English
Publishing date	2023-05-09
Publishing country	Germany
Document type	Clinical Trial, Veterinary ; Journal Article
ZDB-ID	232729-6
ISSN	1439-0396 ; 0044-3565 ; 0931-2439
ISSN (online)	1439-0396
ISSN	0044-3565 ; 0931-2439
DOI	10.1111/jpn.13829
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Article ; Online: Description of the D4/D4 genotype in Miniature horses with dwarfism.

Andrade, Danilo G A / Basso, Roberta M / Castiglioni, Maria C R / Silva, Jeana P / Machado, Vânia M V / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, José P

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc

2020 Volume 32, Issue 1, Page(s) 99–102

Abstract: Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the ... ...

Abstract	Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine
MeSH term(s)	Aggrecans/genetics ; Animals ; Dwarfism/genetics ; Dwarfism/veterinary ; Genotype ; Horses/abnormalities ; Horses/genetics ; Male ; Mutation
Chemical Substances	Aggrecans
Language	English
Publishing date	2020-01-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	287603-6
ISSN	1943-4936 ; 1040-6387
ISSN (online)	1943-4936
ISSN	1040-6387
DOI	10.1177/1040638719898164
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Description of the D4/D4 genotype in Miniature horses with dwarfism

Andrade, Danilo G. A / Basso, Roberta M / Castiglioni, Maria C. R / Silva, Jeana P / Machado, Vânia M. V / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, José P

Journal of veterinary diagnostic investigation. 2020 Jan., v. 32, no. 1

2020

Abstract: Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine aggrecan (ACAN) gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the ... ...

Abstract	Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine aggrecan (ACAN) gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the disproportionate dwarfism phenotype. However, no case description of homozygotes for D4 (D4/D4) has been reported in the literature, to our knowledge. We report 2 Miniature horses with the genotype D4/D4 in the ACAN gene. Clinically, the 2 dwarfs had a domed head that was large compared to the rest of the body, mandibular prognathism, and short and bowed limbs, mainly in the proximal region of the metatarsal bones. Radiographic examination revealed contour irregularities of the subchondral bone in the long bones and confirmed mandibular prognathism; histopathology revealed irregular chondrocyte organization. To determine the genotypes of the horses, we performed DNA extraction from white blood cells, PCR, and Sanger sequencing. Genotyping demonstrated that these 2 animals had the D4/D4 genotype in the ACAN gene. The D4/D4 dwarfs were clinically similar to animals with the other ACAN genotypes reported for this disease. Identification of heterozygous animals makes mating selection possible and is the most important control measure to minimize economic losses and casualties.
Keywords	DNA ; Miniature (horse breed) ; bones ; control methods ; dwarfing ; financial economics ; genes ; genotyping ; head ; heterozygosity ; histopathology ; homozygosity ; horses ; leukocytes ; mutation ; phenotype ; polymerase chain reaction ; radiography
Language	English
Dates of publication	2020-01
Size	p. 99-102.
Publishing place	SAGE Publications
Document type	Article
ZDB-ID	287603-6
ISSN	1943-4936 ; 1040-6387
ISSN (online)	1943-4936
ISSN	1040-6387
DOI	10.1177/1040638719898164
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Imiquimod treatment for Equus caballus papillomavirus infection in equine aural plaques.

Zakia, Luiza S / Olivo, Giovane / Basso, Roberta M / Mira, Juliana / Herman, Mariana / Araujo, Joao P / Borges, Alexandre S / Oliveira-Filho, José P

Veterinary dermatology

2016 Volume 27, Issue 3, Page(s) 175–e44

Abstract: Background: Aural plaques are a dermatopathy associated with Equus caballus papillomavirus (EcPV). This disease affects horses of all ages, genders and breeds, and causes sensitivity of the ears.: Hypothesis/objectives: The aim of this study was to ... ...

Abstract	Background: Aural plaques are a dermatopathy associated with Equus caballus papillomavirus (EcPV). This disease affects horses of all ages, genders and breeds, and causes sensitivity of the ears. Hypothesis/objectives: The aim of this study was to evaluate the clinical efficacy of 5% imiquimod cream for the treatment of aural plaques and to compare the PCR detection of EcPV 3, 4, 5 and 6 before and after treatment. Animals: Eight horses diagnosed with aural plaques (14 ears) were used. Three mares with unilateral aural plaques were used as untreated controls. Methods: Imiquimod cream was applied every 48 h until complete resolution of the aural plaques was observed. Animals were evaluated clinically for 180 days after the end of treatment. PCR for detecting EcPV 3, 4, 5 and 6 was performed using aural plaque biopsies collected before and at 90 days after the end of treatment. Results: Clinical resolution was observed in 93% of the treated ears. Imiquimod treatment promoted the clearance of EcPV in 71.4% of the treated ears. Clinical remission of the aural plaques and changes in EcPV DNA positivity between the first and second biopsies were not observed in the control group. In 75% of horses, sedation was required in order to carry out pretreatment cleaning. Conclusions: The results of this study support the hypothesis that 5% imiquimod cream may be used as an effective treatment for aural plaques in horses.
MeSH term(s)	Adjuvants, Immunologic/administration & dosage ; Adjuvants, Immunologic/therapeutic use ; Aminoquinolines/therapeutic use ; Animals ; Case-Control Studies ; Ear Auricle/pathology ; Ear Diseases/drug therapy ; Ear Diseases/veterinary ; Horse Diseases/drug therapy ; Horses ; Papillomaviridae/classification ; Papillomavirus Infections/drug therapy ; Papillomavirus Infections/veterinary ; Papillomavirus Infections/virology ; Skin Diseases, Viral/drug therapy
Chemical Substances	Adjuvants, Immunologic ; Aminoquinolines ; imiquimod (P1QW714R7M)
Language	English
Publishing date	2016-06
Publishing country	England
Document type	Journal Article
ZDB-ID	2011122-8
ISSN	1365-3164 ; 0959-4493
ISSN (online)	1365-3164
ISSN	0959-4493
DOI	10.1111/vde.12305
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Article ; Online: Use of PCR to estimate the prevalence of Equus caballus papillomavirus in aural plaques in horses.

Gorino, Ana Claudia / Oliveira-Filho, Jose P / Taniwaki, Sueli A / Basso, Roberta M / Zakia, Luiza S / Araujo, João P / Borges, Alexandre S

Veterinary journal (London, England : 1997)

2013 Volume 197, Issue 3, Page(s) 903–904

Abstract: Aural plaques occur on the skin of the medial surface of the pinnae of horses. In this study the presence of Equus caballus papillomavirus (EcPV)-3 and -4 DNA was assessed in 45 such plaques using a 'touchdown' PCR. Papillomaviruses (PVs) were detected ... ...

Abstract	Aural plaques occur on the skin of the medial surface of the pinnae of horses. In this study the presence of Equus caballus papillomavirus (EcPV)-3 and -4 DNA was assessed in 45 such plaques using a 'touchdown' PCR. Papillomaviruses (PVs) were detected in 62.3% (28/45) of samples: EcPV-3 and -4 DNA in 8.89% (4/45) and 37.78% (17/45) of samples, respectively, with 15.56% (7/45) of samples exhibiting co-infection. Viral DNA was not detected in 37.78% (17/45) of samples, suggesting the possible existence of other equine PVs. Neither EcPV-3 nor -4 were detected in negative control skin. This study is the first to evaluate the prevalence of these two viruses in equine aural plaques.
MeSH term(s)	Animals ; DNA, Viral/genetics ; Ear Diseases/veterinary ; Ear Diseases/virology ; Horse Diseases/diagnosis ; Horse Diseases/virology ; Horses ; Papillomaviridae/classification ; Papillomaviridae/genetics ; Papillomaviridae/isolation & purification ; Papillomavirus Infections/diagnosis ; Papillomavirus Infections/veterinary ; Papillomavirus Infections/virology ; Polymerase Chain Reaction/methods ; Polymerase Chain Reaction/veterinary ; Sensitivity and Specificity ; Skin Diseases, Viral/diagnosis ; Skin Diseases, Viral/veterinary
Chemical Substances	DNA, Viral
Language	English
Publishing date	2013-09
Publishing country	England
Document type	Journal Article
ZDB-ID	428614-5
ISSN	1532-2971 ; 0372-5545 ; 1090-0233
ISSN (online)	1532-2971
ISSN	0372-5545 ; 1090-0233
DOI	10.1016/j.tvjl.2013.05.014
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