[Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa].

doi:10.3760/cma.j.cn511374-20201203-00842

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Article

[Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2022

Shao Yi, Wang Jianbo, Zhang Shasha, Dou Jinfa, Wang Chen, Zhang Shoumin, Li Zhenlu

Abstract excerpt

OBJECTIVE: To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr. METHODS: Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing. The pathogenicity of the variation was analyzed. RESULTS: Compound...

Topics

Collagen Type VII
Epidermolysis Bullosa Dystrophica
Female
Humans
Male
Mutation
Pedigree
Phenotype

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Open in PubMed

Identifiers

PMID: 35598269
DOI: 10.3760/cma.j.cn511374-20201203-00842

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