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[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Ding Hongxiang, Li Shanshan, Zhu Lidan, Xu Xiaojie, Ni Li, Jiang Minghua

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genetic variant in a pedigree affected with inherited protein C (PC) deficiency. METHODS: The proband and her family members (7 individuals from 3 generations) were tested for plasma protein C activity (PC:A), protein C antigen (PC:Ag) content and other coagulation indicators. All of the 9 exons and flanking sequences of the proband's PROC gene were amplified by PCR and...

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Identifiers

PMID: 34729752
DOI: 10.3760/cma.j.cn511374-20200901-00641

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