PMID: 17495606

Levy E, Spahis S, Sinnett D, Peretti N, Maupas-Schwalm F, Delvin E, Lambert M, Lavoie MA
Intestinal cholesterol transport proteins: an update and beyond.
Curr Opin Lipidol. 2007 Jun;18(3):310-8., [PubMed]
Sentences
No. Mutations Sentence Comment
100 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 17495606:100:238
status: VERIFIED
view ABCG8 p.Thr400Lys details
ABCG8 p.Tyr54Cys
X
ABCG8 p.Tyr54Cys 17495606:100:244
status: VERIFIED
view ABCG8 p.Tyr54Cys details
 On the other hand, patients with primary hypercholesterolemia, according to NCEP,were associated with a specific ABCB1 haplotype, suggesting this polymorphism may contribute to increased plasma cholesterol and LDL levels [42].ABCG8(A632V,T400K,Y54C)andABCG5(Q604E) variants, however, are likely to be important forthe genetic determination of plasma cholesterol levels, probably via their influence on intestinal absorption and biliary secretion [43-45]. Login to comment