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Article

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.

Hereditas - 20 Feb 2024

Xie Xiaoying, Du Juan, Geng Shunkang, Yi Baoqin, Li Qingpu, Zuo Jiangcheng

Abstract excerpt

Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G > C, p.Arg223Thr) in the FGG gene. And electron microscope...

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Identifiers

PMID: 38374144
DOI: 10.1186/s41065-024-00313-3
PMCID: PMC10877905

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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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