Article
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
Clinical and experimental dermatology - 1 Jul 2018
Saeidian A H, Youssefian L, Moreno Trevino M G, Fortuna G, Vahidnezhad H, Atanasova V S, Uitto J, Salas-Alanis J C, South A P
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB; OMIM #226600) is one of the most devastating subtypes of epidermolysis bullosa, a group of skin and mucous membrane blistering disorders often associated with extracutaneous manifestations. RDEB is caused by mutations in COL7A1, the gene encoding type VII collagen (C7), and to date over 700 different mutations in the 8835 nucleotides constituting the open reading...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.