Article
Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
PloS one - 1 Jan 2012
Lin Ying, Chen Xue-Jun, Liu Wei, Gong Bo, Xie Jun, Xiong Jun-Hao, Cheng Jing, Duan Xi-Ling, Lin Zhao-Chun, Huang Lu-Lin, Wan Hui-Ying, Liu Xiao-Qi, Song Lin-Hong, Yang Zheng-Lin
Abstract excerpt
Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal junction. Besides the 730 mutations reported, we identified two novel COL7A1 gene mutations in a Chinese family, which caused recessive dystrophic epidermolysis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.