PMID: 16135817

Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N, Li K, Pulkkinen L, Birk DE, Sundberg JP, Uitto J
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.
Mol Cell Biol. 2005 Sep;25(18):8299-310., [PubMed]
Sentences
No. Mutations Sentence Comment
45 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16135817:45:84
status: NEW
view ABCC6 p.Arg1141* details
 In addition, it was recently suggested that a recurrent mutation in the ABCC6 gene, R1141X, which is frequently encountered in Caucasian populations, is associated with a significantly increased risk for cardiovascular disease (59). Login to comment