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[Analysis of a hereditary protein C deficient consanguineous pedigree caused by Phe139Val homozygous mutation].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Sept 2013

Yang Li-hong, Zhu Li-qing, Wang Ying-yu, Xie Hai-xiao, Xie Yao-sheng, Jin Yan-hui, Wang Ming-shan, Chen Bi-cheng, Yang Xiao-li

Abstract excerpt

OBJECTIVE: To analyze genetic mutation and explore its molecular pathogenesis for an hereditary protein C (PC) deficient consanguineous pedigree. METHODS: The pedigree included three generations and contained eight members. PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were detected for all family members. Protein C gene (PROC) include all the exons and intron exon boundaries were...

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Identifiers

PMID: 24103874
DOI: 10.3760/cma.j.issn.0253-2727.2013.09.007

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PROC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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