Article
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Molecular vision - 24 Jan 2008
Plomp Astrid S, Florijn Ralph J, Ten Brink Jacoline, Castle Bruce, Kingston Helen, Martín-Santiago Ana, Gorgels Theo G M F, de Jong Paulus T V M, Bergen Arthur A B
Abstract excerpt
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, affecting the retina, the skin, and the cardiovascular system. PXE is caused by mutations in ABCC6. Up to now, the literature reports that there are 180 different ABCC6 mutations in PXE. The purpose of this paper is to report eight novel mutations in ABCC6 and to update the spectrum and frequency of ABCC6 mutations in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.