A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD.
Le Saux O, et al. Among authors: bercovitch l.
Am J Hum Genet. 2001 Oct;69(4):749-64. doi: 10.1086/323704. Epub 2001 Aug 31.
Am J Hum Genet. 2001.
PMID: 11536079
Free PMC article.