PMID: 15888484

Gorgels TG, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PT, van Kuppevelt TH, Levelt CN, de Wolf A, Loves WJ, Scheper RJ, Peek R, Bergen AA
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.
Hum Mol Genet. 2005 Jul 1;14(13):1763-73. Epub 2005 May 11., 2005-07-01 [PubMed]
Sentences
No. Mutations Sentence Comment
31 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 15888484:31:67
status: NEW
view ABCC6 p.Arg1141* details
 Furthermore, we found that a frequent (founder) mutation in ABCC6, R1141X (10), may be associated with a strong increase in the prevalence of premature coronary artery disease (5). Login to comment