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  • Title: Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136-->Cys) gene variant.
    Author: Vrablík M, Horínek A, Ceska R, Stulc T, Kvasnicka T.
    Journal: Physiol Res; 2003; 52(5):647-50. PubMed ID: 14535841.
    Abstract:
    Apolipoprotein E (apoE) is a polymorphic protein which occurs in three common isoforms and more than 25 rare variants. Some of the rare apoE variants have been implicated in a dominant mode of inheritance of familial dysbetalipoproteinemia (FD). We have identified three unrelated apoE 2*(Arg136-->Cys) carriers with FD. This finding supports the notion that although apoE 2*(Arg136-->Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers.
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