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Article

[Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2016

Yan Jie, Deng Donghong, Deng Xuelian, Luo Meiling, Cheng Peng, Liao Lin, Lin Faquan

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype of a family affected with congenital dysfibrinogenemia and potential mutations underlying the disease. METHODS: Coagulation testing and hepatorenal function testing were conducted on 18 individuals from three generations. Plasma fibrinogen was extracted and analyzed with SDS-PAGE electrophoresis. All of the exons and flanking sequences of fibrinogen FGA, FGB, FGG genes...

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Source

Identifiers

PMID: 27060305
DOI: 10.3760/cma.j.issn.1003-9406.2016.02.007

Genes

FGG
FGA
FGB
SDS

Provenance

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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