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[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017

Yang Lihong, Jin Yanhui, Yang Ting, Chen Xiaoli, Zhu Liqing, Wang Mingshan

Abstract excerpt

OBJECTIVE: To explore the pathogenesis of protein C deficiency in two pedigrees through mutation detection and model analysis. METHODS: Chromogenic substrate method and enzyme linked immunosorbent assay (ELISA) were used to determine the plasma protein C activity (PC: A) and protein C antigen (PC: Ag) in the two probands and their family members. All of the 9 exons and intron-exon boundaries of the PROC gene were...

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Source

Identifiers

PMID: 28186585
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.003

Genes

PROC

Variants

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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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