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[Analysis of COL1A1 gene variants in five Chinese pedigrees affected with osteogenesis imperfecta].

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

Jiao Zhihui, Zheng Lili, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To detect potential variants of COL1A1 gene in five Chinese pedigrees affected with osteogenesis imperfecta (OI) and provide prenatal diagnosis for a fetus at 11th gestational week. METHODS: The coding regions and exon/intron boundaries of 225 genes associated with bone diseases were subjected to targeted capture and next generation sequencing (NGS). Suspected mutations were verified with Sanger...

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Identifiers

PMID: 32034735
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.005

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