PMID: 23408347

Leftheriotis G, Omarjee L, Le Saux O, Henrion D, Abraham P, Prunier F, Willoteaux S, Martin L
The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification.
Front Genet. 2013 Feb 12;4:4. doi: 10.3389/fgene.2013.00004. eCollection 2013., [PubMed]
Sentences
No. Mutations Sentence Comment
109 ABCC6 p.Arg1268Gln
X
ABCC6 p.Arg1268Gln 23408347:109:54
status: NEW
view ABCC6 p.Arg1268Gln details
 Althoughseveralmissense mutations (H623Q, R3190W, and R1268Q) were found in the patients with carotid dissection, these mutations were not disease-causing as they were also detected in healthy subjects (Morcher et al., 2003). Login to comment 118 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 23408347:118:66
status: NEW
view ABCC6 p.Arg1141* details
 In the coronary arterial bed, the association with a heterozygous R1141X mutation in ABCC6 and ischemic vascular events including stroke, was not demonstrated in the general population (n = 66831 participants; Hornstrup et al., 2011), although a strong association was reported only with coronary artery disease (Koblos et al., 2010). Login to comment