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[Analysis of an hereditary protein C deficiency pedigree with compound heterozygous gene mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2012

Yang Li-hong, Zhu Li-qing, Yang Xia-oli, Wang Ming-shan, Li Jia, Chen Bi-cheng, Jin Yan-hui, Zhang Zhuo, Zheng Fang-xiu

Abstract excerpt

OBJECTIVE: To analyze genetic mutations and explore its molecular pathogenesis for an hereditary protein C (PC) deficiency pedigree. METHODS: The pedigree has included 15 individuals from 4 generations. Plasma levels of PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were determined for members of the family. The 9 exons and intron-exon boundaries of protein C gene (PROC) of the proband were...

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PMID: 23042384
DOI: 10.3760/cma.j.issn.1003-9406.2012.05.003

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