Article
Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136-->Cys) gene variant.
Physiological research - 1 Jan 2003
Vrablík M, Horínek A, Ceska R, Stulc T, Kvasnicka T
Abstract excerpt
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...
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