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[COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis].

Zhonghua yi xue za zhi - 27 Jan 2015

Liu Ning, Guo Hongxiang, Kong Xiangdong, Shi Huirong, Yang Yun, Wu Qinghua, Zhao Zhenhua, Jiang Miao

Abstract excerpt

OBJECTIVE: To analyze the mutations of COL7A1 gene in two dystrophic epidermolysis bullosa (DEB) pedigrees and make prenatal diagnosis for high-risk 11-week-old fetuses. METHODS: COL7A1 gene was first analyzed by next-generation sequencing for detecting suspicious gene mutations of two probands. And then the mutations were confirmed by polymerase chain reaction and Sanger sequencing in probands, parents and...

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PMID: 25877244

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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