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[Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Ma Chengxia, Zheng Guangying, Hao Lili

Abstract excerpt

OBJECTIVE: To identify the disease-causing gene mutations in three Chinese pedigrees affected with congenital inherited cataract, in ordre to provide genetic counseling and prenatal diagnosis. METHODS: Using exons combined target region capture sequencing chip to screen the candidate disease-causing mutations, Sanger sequencing was used to confirm the disease-causing mutations. RESULTS: Family 1 was polymorphic...

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Identifiers

PMID: 29652984
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.004

Genes

CRYGD

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