PMID: 17693525

Zarbock R, Hendig D, Szliska C, Kleesiek K, Gotting C
Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset.
Clin Chem. 2007 Oct;53(10):1734-40. Epub 2007 Aug 10., [PubMed]
Sentences
No. Mutations Sentence Comment
53 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 17693525:53:107
status: NEW
view ABCC6 p.Arg1141* details
 The most common causative PXE mutations among these patients were the nonsense mutation c.3421CϾT (p.R1141X), the splice site mutation c.2787 ϩ 1GϾT, and the large deletion Ex23_Ex29del. Login to comment 142 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 17693525:142:53
status: NEW
view ABCC6 p.Arg1141* details
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 17693525:142:163
status: NEW
view ABCC6 p.Arg1141* details
ABCC6 p.Gln378*
X
ABCC6 p.Gln378* 17693525:142:226
status: NEW
view ABCC6 p.Gln378* details
ABCC6 p.Glu507*
X
ABCC6 p.Glu507* 17693525:142:247
status: NEW
view ABCC6 p.Glu507* details
 b Patients who are (a) homozygous for PXE mutation p.R1141X, c.2787 ϩ 1GϾT, or c.4434delA; and (b) compound heterozygotes for 2 of the PXE mutations p.R1141X, c.2787 ϩ 1GϾT, Ex23_Ex29del, c.4182delG, p.Q378X, c.1995delG, p.E507X, and c.2835_2850del16. Login to comment