PMID: 16133423

Gotting C, Hendig D, Adam A, Schon S, Schulz V, Szliska C, Kuhn J, Kleesiek K
Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis.
J Mol Med (Berl). 2005 Dec;83(12):984-92. Epub 2005 Aug 24., [PubMed]
Sentences
No. Mutations Sentence Comment
11 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16133423:11:62
status: NEW
view ABCC6 p.Arg1141* details
 The occurrence of the frequent ABCC6 gene mutation c.3421C>T (R1141X) and the hypertension-associated genetic variants T174M and M235T in the angiotensinogen (AGT) gene were determined. Login to comment