Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease
Research output: Contribution to journal › Journal article › peer-review
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 language | English |
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Journal | Circulation: Cardiovascular Genetics |
Volume | 4 |
Issue number | 5 |
Pages (from-to) | 534-41 |
Number of pages | 8 |
ISSN | 1942-325X |
DOIs | |
Publication status | Published - 2011 |
ID: 40156932