Article
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.
Circulation - 13 Aug 2002
Trip Mieke D, Smulders Yvo M, Wegman Jurgen J, Hu Xiaofeng, Boer Jolanda M A, ten Brink Jacoline B, Zwinderman Aeilko H, Kastelein John J P, Feskens Edith J M, Bergen Arthur A B
Abstract excerpt
BACKGROUND: Pseudoxanthoma elasticum (PXE) is an inborn disorder of the connective tissue with specific skin, ocular, and cardiovascular disease (CVD) manifestations. Recently, we and others have identified mutations in the gene coding for the ABCC6 transporter in PXE patients with ocular and skin involvement. In the Netherlands, as in the rest of Europe, a particular premature truncation variant ABCC6 (R1141X)...
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