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[Phenotype and genotype analyses of two pedigrees with inherited fibrinogen deficiency].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Nov 2023

Jia K Q, Su Z X, Chen H L, Zheng X Y, Zeng M L, Zhang K, Ye L Y, Yang L L, Jin Y H, Wang M S

Abstract excerpt

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three...

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Identifiers

PMID: 38185523
DOI: 10.3760/cma.j.issn.0253-2727.2023.11.008
PMCID: PMC10753259

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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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