PMID: 25735631

Charbel Issa P, Gliem M, Holz FG, Knabbe C, Hendig D
[Pseudodominant inheritance of pseudoxanthoma elasticum].
Ophthalmologe. 2015 Aug;112(8):686-90. doi: 10.1007/s00347-014-3231-9., [PubMed]
Sentences
No. Mutations Sentence Comment
78 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25735631:78:73
status: NEW
view ABCC6 p.Arg1141* details
 Hornstrup LS,Tybjaerg-Hansen A, Haase CL et al (2011) Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. Login to comment 80 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25735631:80:62
status: NEW
view ABCC6 p.Arg1141* details
 K&#f6;bl&#f6;s G, Andrikovics H, Prohaszka Z et al (2010) The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. Login to comment 92 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25735631:92:80
status: NEW
view ABCC6 p.Arg1141* details
 Trip MD, SmuldersYM,Wegman JJ et al (2002) Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Login to comment