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.
Originalsprog | Engelsk |
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Tidsskrift | Circulation: Cardiovascular Genetics |
Vol/bind | 4 |
Udgave nummer | 5 |
Sider (fra-til) | 534-41 |
Antal sider | 8 |
ISSN | 1942-325X |
DOI | |
Status | Udgivet - 2011 |
ID: 40156932