Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.


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… (More)
DOI: 10.1161/CIRCGENETICS.110.958801

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