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  1. Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients : a comparison of two geographical areas.

    Article - En anglais

    Afrikaners with familial hypercholesterolaemia (FH) were screened for the presence of three point mutations in the low density lipoprotein receptor gene that were previously described as being relatively common in this population.

    The prevalence and distribution of the mutations were compared in 27 unrelated homozygous and 79 unrelated heterozygous FH Afrikaner patients from two regions in South Africa, the Transvaal and Cape Provinces.

    Mots-clés Pascal : Hypercholestérolémie, Métabolisme pathologie, Récepteur biologique, Lipoprotéine LDL, Gène, Mutation, République Sud Africaine, Afrique, Homme, Génétique épidémiologique

    Mots-clés Pascal anglais : Hypercholesterolemia, Metabolic diseases, Biological receptor, Lipoprotein LDL, Gene, Mutation, South Africa, Africa, Human, Epidemiologic genetics

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

    Cote : 92-0255825

    Code Inist : 002B22. Création : 199406.