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Article

Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative.

Thrombosis research - 1 Dec 2020

Yoda Masahiro, Kaido Takahiro, Taira Chiaki, Higuchi Yumiko, Arai Shinpei, Okumura Nobuo

Abstract excerpt

INTRODUCTION: Congenital fibrinogen disorders result from genetic mutations in FGA, FGB, or FGG resulting in quantitative fibrinogen deficiencies (afibrinogenemia or hypofibrinogenemia) or qualitative fibrinogen deficiencies (dysfibrinogenemia). Hypodysfibrinogenemia sharing features with hypo- and dysfibrinogenemia is rare. We performed genetic and functional analyses of a 31-year-old woman with suspected...

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PMID: 32871307
DOI: 10.1016/j.thromres.2020.08.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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