Article
Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.
Circulation. Cardiovascular genetics - 1 Oct 2011
Hornstrup Louise S, Tybjærg-Hansen Anne, Haase Christiane L, Nordestgaard Børge G, Sillesen Henrik, Grande Peer, Frikke-Schmidt Ruth
Abstract excerpt
BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease. We tested the hypothesis that heterozygosity for R1141X, the most frequent PXE-causing mutation in Caucasians, associated with risk of ischemic vascular disease, as previous studies suggested...
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