PMID: 16183260

Katona E, Aslanidis C, Remenyik E, Csikos M, Karpati S, Paragh G, Schmitz G
Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum.
J Dermatol Sci. 2005 Nov;40(2):115-21. Epub 2005 Sep 23., [PubMed]
Sentences
No. Mutations Sentence Comment
24 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16183260:24:30
status: NEW
view ABCC6 p.Arg1141* details
 The most common mutations are R1141X and a deletion from exon 23 to 29, with the latter being present in 13% of PXE cases [5,9,11]. Login to comment