PMID: 23968982

Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, Voet D, De Paepe A, De Backer T, De Backer J
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
Arterioscler Thromb Vasc Biol. 2013 Nov;33(11):2646-52. doi: 10.1161/ATVBAHA.113.301901. Epub 2013 Aug 22., [PubMed]
Sentences
No. Mutations Sentence Comment
86 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 23968982:86:265
status: NEW
view ABCC6 p.Arg1141* details
 Patients with PXE generally have a normal life span but are prone to vascular disease, such as CAD, PAD, and cerebrovascular disease.3 Conversely, a large population-based study showed an association between premature CAD and a frequent mutation in the ABCC6 gene (R1141X).12 As such, PXE can serve as a genetic model for the study of the pathophysiology of common cardiovascular diseases. Login to comment