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[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2017

Meng Lanlan, Du Juan, Li Wen, Lu Guangxiu, Tan Yueqiu

Abstract excerpt

OBJECTIVE: To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS). METHODS: Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of...

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Identifiers

PMID: 28777847
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.008

Genes

KRT14

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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