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[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency due to heterozygous deletional mutation of PROC gene].

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

Liu Siqi, Yu Fang, Luo Shasha, Li Xiaolong, Jin Yanhui, Yang Lihong, Zhou Xingxing, Zhang Haiyue, Wang Mingshan

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genetic variants of a pedigree affected with hereditary protein C (PC) deficiency. METHODS: The protein C activity (PC:A) of the proband and her family members (a four-generation pedigree including 11 individuals) were tested by chromogenic substrate method, and the protein C antigen (PC:Ag) was detected with an enzyme-linked immunosorbent assay(ELISA). The 9 exons and...

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PMID: 32924112
DOI: 10.3760/cma.j.cn511374-20190625-00312

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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