Article
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
American journal of human genetics - 1 Oct 2001
Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring H H, Johnson E W, De Paepe A, Pope F M, Pasquali-Ronchetti I, Bercovitch L, Marais A S, Viljoen D L, Terry S F, Boyd C D
Abstract excerpt
To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE, the largest cohort of patients yet studied. Thirty-six mutations were characterized, and, among these, 28 were novel variants (for a total of 43 PXE mutations known to date). Twenty-one alleles were missense variants,...
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