Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

V Klaus, T Vermeulen, B Minassian, N Israelian, K Engel, Allan Meldgaard Lund, K Roebrock, E Christensen, J Häberle

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

    22 Citationer (Scopus)

    Abstract

    Udgivelsesdato: 2009-Sep
    OriginalsprogEngelsk
    TidsskriftClinical Genetics
    Vol/bind76
    Udgave nummer3
    Sider (fra-til)263-9
    Antal sider6
    ISSN0009-9163
    DOI
    StatusUdgivet - 2009

    Bibliografisk note

    Keywords: Alleles; Base Sequence; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Clone Cells; Cloning, Molecular; DNA, Complementary; Electrophoresis, Agar Gel; Enhancer Elements, Genetic; Exons; Family; Female; Gene Expression Regulation; Genetic Variation; Haplotypes; Humans; Male; Middle Aged; Molecular Sequence Data; Pedigree; Phenotype

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