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[Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Lyu Xue, Li Hao, Liu Hongyan, Chou Haiyan, Li Tao, Zhou Wu

Abstract excerpt

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB). METHODS: All exons of the COL7A1 gene and their flanking regions were subjected to PCR and Sanger sequencing. Suspected variant was validated in family members, based on which prenatal diagnosis was provided. RESULTS: Sanger sequencing found that the proband has carried two...

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Share to Collagen Type VII
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32219833
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.020

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