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[Phenotype-genotype analysis and detection of gene variant in six families with osteogenesis imperfecta].

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

Hou Rui, Li Chuang, Liu Caixia, Li Huan, Li-Ling Jesse, Lyu Yuan, Zhang Zhitao

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype of six pedigrees affected with osteogenesis imperfecta and their genetic basis. METHODS: Peripheral blood or abortic tissues of the six pedigrees were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect pathological variants in the genome. Sanger sequencing was used for validating suspected variant among the six...

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PMID: 32335875
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.005

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