PMID: 23248644

Le Saux O, Martin L, Aherrahrou Z, Leftheriotis G, Varadi A, Brampton CN
The molecular and physiological roles of ABCC6: more than meets the eye.
Front Genet. 2012 Dec 12;3:289. doi: 10.3389/fgene.2012.00289. eCollection 2012., [PubMed]
Sentences
No. Mutations Sentence Comment
167 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 23248644:167:166
status: NEW
view ABCC6 p.Arg1141* details
 However, this is not without controversy as a much larger study based on 66,831 individuals has found no risk for ischemic heart diseases associated with the ABCC6 p.R1141X mutation (Hornstrup et al., 2011). Login to comment 168 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 23248644:168:357
status: NEW
view ABCC6 p.Arg1141* details
 Stroke is also a vascular-related condition frequently reported in PXE patients (Aessopos et al., 1997; van den Berg et al., 2000) but it could well be that strokes etiology in certain PXE individuals might not be related to ABCC6 deficiency as Hornstrup et al. could not statistically link cerebrovascular diseases with the most frequent ABCC6 mutation (p.R1141X). Login to comment