Article
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
Journal of molecular medicine (Berlin, Germany) - 1 Sept 2001
Cai L, Lumsden A, Guenther U P, Neldner S A, Zäch S, Knoblauch H, Ramesar R, Hohl D, Callen D F, Neldner K H, Lindpaintner K, Richards R I, Struk B
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is an inherited disorder of the elastic tissue with characteristic progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Recently mutations in the ABCC6 gene, encoding a transmembrane transporter protein, were identified as cause of the disease. Surprisingly, sequence and RFLP analysis for exon 9 with primers corresponding to flanking intronic...
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