Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansFemaleMalePedigreeAdult
[Genetic analysis of a family with inheritary coagulation factor Ⅹ deficiency due to compound heterozygous variants p.Phe71Ser and p.Val424Phe].
Shuangnyu Lin, Bile Chen, Zuoting Xie, Lihong Yang, Mingshan Wang, Yanhui Jin
Published: 202510.3760/cma.j.cn511374-20250706-00408
Abstract
OBJECTIVE: To analyze the phenotype and genotype of a family with hereditary coagulation factor Ⅹ (FⅩ) deficiency and preliminarily explore its molecular pathogenesis. METHODS: A hereditary FⅩ deficiency pedigree presented at the First Affiliated Hos…
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