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Your search keyword '"Haase, Christiane L"' showing total 2 results
Start Over Author "Haase, Christiane L" Journal circulation: cardiovascular genetics
2 results on '"Haase, Christiane L"'

2. Heterozygosity for R1141X in ABCC6and Risk of Ischemic Vascular Disease

Author

Hornstrup, Louise S., Tybjærg-Hansen, Anne, Haase, Christiane L., Nordestgaard, Børge G., Sillesen, Henrik, Grande, Peer, and Frikke-Schmidt, Ruth

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.

Published
2011
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