Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136-->Cys) gene variant |
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Authors: | Vrablík M Horínek A Ceska R Stulc T Kvasnicka T |
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Institution: | Third Internal Department, First Faculty of Medicine, Charles University, U nemocnice 1, 128 08 Prague 2, Czech Republic. michal.vrablik@seznam.cz |
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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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