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[Analysis of PROC gene variant in a Chinese 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 2022

Chen Yuan, Shi Jiamin, Huang Xiaoxia, Sheng Anqun, Lu Chaosheng, Zhu Mianmian, Wang Qiu, Wang Mingshan, Wang Dan

Abstract excerpt

OBJECTIVE: To explore the molecular pathogenesis of a Chinese pedigree affected with inherited protein C (PC) deficiency. METHODS: The protein C activity (PC:A) and protein C antigen (PC:Ag) of the proband and his family members were determined by a chromogenic substrate method and enzyme-linked immunosorbent assay, respectively. The proband was subjected to whole exome sequencing. Candidate variants were...

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PMID: 36317209
DOI: 10.3760/cma.j.cn511374-20210809-00661

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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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