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  1. Wilson's disease in Israel : a genetic and epidemiological study.

    Article - En anglais

    Clinical and family history data on persons affected with Wilson disease (WD) living in Israel between 1958 and 1984 were ascertained from the literature, hospital records and neurological and gastroenterological clinics.

    From this population of 51 families, representing a diversity of Middle Eastern, North African and European backgrounds, bloods samples were collected from affected individuals in 21 families, their parents, sibs and other relatives for quantitative determinations of plasma copper and ceruloplasmin, liver tests and DNA analysis.

    Mots-clés Pascal : Asie, Wilson maladie, Cuivre, Elément minéral, Israël, Analyse biochimique, Maladie héréditaire, Appareil digestif pathologie, Métabolisme pathologie, Système nerveux pathologie, Allèle, Phénotype, Epidémiologie, Exploration, Fréquence génique, Homme, Ethnie, Etude familiale, DNA, Marqueur génétique, Céruléoplasmine

    Mots-clés Pascal anglais : Asia, Wilson disease, Copper, Inorganic element, Israel, Biochemical analysis, Genetic disease, Digestive diseases, Metabolic diseases, Nervous system diseases, Allele, Phenotype, Epidemiology, Exploration, Gene frequency, Human, Ethnic group, Family study, DNA, Genetic marker

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 91-0146590

    Code Inist : 002B22E03. Création : 199406.