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  1. Article ; Online: Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.

    Cismondi, I Adriana / Kohan, Romina / Ghio, Addy / Ramirez, Ana M Oller / Halac, Inés Noher

    Human genetics

    2008  Volume 124, Issue 3, Page(s) 323–324

    MeSH term(s) Adolescent ; Argentina ; Biopsy ; Codon/genetics ; Codon, Terminator ; Exons ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Male ; Membrane Proteins/genetics ; Mutation ; Neuronal Ceroid-Lipofuscinoses/ethnology ; Neuronal Ceroid-Lipofuscinoses/genetics ; Phenotype
    Chemical Substances CLN6 protein, human ; Codon ; Codon, Terminator ; Membrane Proteins
    Language English
    Publishing date 2008-10
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.

    Cismondi, I Adriana / Kohan, Romina / Ghio, Addy / Ramirez, Ana M Oller / Halac, Inés Noher

    Human genetics

    2008  Volume 124, Issue 3, Page(s) 324

    MeSH term(s) Adolescent ; Amino Acid Substitution ; Argentina ; Biopsy ; Codon/genetics ; Exons ; Female ; Heterozygote ; Humans ; Male ; Membrane Proteins/genetics ; Mutation, Missense ; Neuronal Ceroid-Lipofuscinoses/ethnology ; Neuronal Ceroid-Lipofuscinoses/genetics ; Phenotype ; Point Mutation
    Chemical Substances CLN6 protein, human ; Codon ; Membrane Proteins
    Language English
    Publishing date 2008-10
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.

    Cismondi, I Adriana / Cannelli, Natalia / Aiello, Chiara / Santorelli, Filippo M / Kohan, Romina / Oller Ramírez, Ana M / Halac, Inés Noher

    Human genetics

    2010  Volume 123, Issue 5, Page(s) 554

    MeSH term(s) Age of Onset ; Frameshift Mutation/genetics ; Gene Deletion ; Genetic Variation/genetics ; Humans ; Infant ; Lysosomal Membrane Proteins ; Membrane Proteins/genetics ; Molecular Sequence Data ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology
    Chemical Substances CLN5 protein, human ; Lysosomal Membrane Proteins ; Membrane Proteins
    Language English
    Publishing date 2010-10-20
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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