Article
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
European journal of human genetics : EJHG - 1 Mar 2003
Hu Xiaofeng, Plomp Astrid, Wijnholds Jan, Ten Brink Jacoline, van Soest Simone, van den Born L Ingeborgh, Leys Anita, Peek Ron, de Jong Paulus T V M, Bergen Arthur A B
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a hereditary disease characterized by progressive dystrophic mineralization of the elastic fibres. PXE patients frequently present with skin lesions and visual acuity loss. Recently, we and others showed that PXE is caused by mutations in the ABCC6/MRP6 gene. However, the molecular pathology of PXE is complicated by yet unknown factors causing the variable clinical expression of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.