Article
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Genetic testing - 1 Jan 2004
Hu Xiaofeng, Plomp Astrid, Gorgels Theo, Brink Jacoline Ten, Loves Willem, Mannens Marcel, de Jong Paulus T V M, Bergen Arthur A B
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a hereditary disorder of connective tissue with skin, cardiovascular, and visual involvement. In familial cases, PXE usually segregates in an autosomal recessive fashion. The aim of this manuscript is to describe an efficient strategy for DNA diagnosis of PXE. The two most frequent mutations, R1141X and an ABCC6 del exons 23-29, as well as a core set of mutations, were identified...
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