PMID: 23807484

Guo H, Li Q, Chou DW, Uitto J
Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-)/(-)).
J Mol Med (Berl). 2013 Oct;91(10):1177-84. doi: 10.1007/s00109-013-1066-5. Epub 2013 Jun 27., [PubMed]
Sentences
No. Mutations Sentence Comment
1 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 23807484:1:88
status: NEW
view ABCC6 p.Arg1141* details
Previous studies have suggested that carriers of the ABCC6 mutations, particularly of p.R1141X, are at increased risk for coronary artery disease. Login to comment
23 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 23807484:23:136
status: NEW
view ABCC6 p.Arg1141* details
However, it has been suggested that heterozygous carrier status of loss-of-function mutations in the ABCC6 gene, particularly that of p.R1141X, the most common mutation in the Caucasian populations, is associated with a strong increase in the prevalence of coronary artery disease [13, 14]. Login to comment