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Heterozygosity for R1141X in ABCC6and Risk of Ischemic Vascular Disease
- Source :
- Circulation: Cardiovascular Genetics; October 2011, Vol. 4 Issue: 5 p534-541, 8p
- Publication Year :
- 2011
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 1942325X
- Volume :
- 4
- Issue :
- 5
- Database :
- Supplemental Index
- Journal :
- Circulation: Cardiovascular Genetics
- Publication Type :
- Periodical
- Accession number :
- ejs48522494
- Full Text :
- https://doi.org/10.1161/CIRCGENETICS.110.958801