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[Analysis of hereditary coagulation factor Ⅺ deficiency in a Chinese pedigree with compound heterozygous mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Deng Yuping, Gong Yuxiang, Zhu Jiajin, Zhou Xingxing, Wang Mingshan, Wu Wenhe

Abstract excerpt

OBJECTIVE: To explore the molecular mechanisms of a Chinese pedigree with hereditary factor Ⅺ (FⅪ) deficiency. METHODS: All of the 15 exons, flanking sequences of the FⅪ gene and the corresponding mutation sites of family members were analyzed by the Sanger sequencing, followed by the extraction of the peripheral blood genomic DNA. And all the results were verified by the reverse sequencing. The conservation of...

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Identifiers

PMID: 35773761
DOI: 10.3760/cma.j.cn511374-20201014-00718

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