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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...

Topics

Adult
Afibrinogenemia
Animals
CHO Cells
Cricetinae
Cricetulus
Female
Fibrinogen
Heterozygote
Humans
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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

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