Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease

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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 4- to 11-fold risk of ischemic heart disease (IHD) in heterozygotes.
Original languageEnglish
JournalCirculation: Cardiovascular Genetics
Volume4
Issue number5
Pages (from-to)534-41
Number of pages8
ISSN1942-325X
DOIs
Publication statusPublished - 2011

ID: 40156932