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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...

Topics

Asian People
Child
Collagen Type VII
Epidermolysis Bullosa Dystrophica
Female
Genes, Recessive
Genotype
Humans
Infant
Infant, Newborn
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Prognosis

Source

Identifiers

PMID: 29531004

Variants

Provenance

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