A Novel Nonsense Mutation in <i>FGB</i> (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype

A Novel Nonsense Mutation in <i>FGB</i> (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype

Congenital hypofibrinogenemia is a rare bleeding disorder characterized by a proportional decrease of functional and antigenic fibrinogen levels. Hypofibrinogenemia can be considered the phenotypic expression of heterozygous loss of function mutations occurring within one of the three fibrinogen gen...

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Bibliographic Details
Main Authors: Tomas Simurda, Rui Vilar, Jana Zolkova, Eliska Ceznerova, Zuzana Kolkova, Dusan Loderer, Marguerite Neerman-Arbez, Alessandro Casini, Monika Brunclikova, Ingrid Skornova, Miroslava Dobrotova, Marian Grendar, Jan Stasko, Peter Kubisz
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Biomedicines
Subjects:
hypofibrinogenemia
Bβ-chain gene
novel nonsense mutation
protein modelling
functional analysis
bleeding phenotype
Online Access:https://www.mdpi.com/2227-9059/8/12/605

Internet

https://www.mdpi.com/2227-9059/8/12/605

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