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Article

Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.

Annals of clinical and laboratory science - 1 Jan 2018

Yan Yousheng, Meng Zhaoyan, Hao Shengju, Wang Fang, Jin Xiaohua, Sun Daguang, Gao Huafang, Ma Xu

Abstract excerpt

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is an inherited skin disorder with variable severity and heterogeneous genetic involvement. Recessive DEB (RDEB) is a rare heritable blistering skin condition caused by loss-of-function mutations in the COL7A1 gene. AIM: This study aimed to determine the genetic basis of three Chinese RDEB patients from different families and identify correlations between...

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PMID: 29531004

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