Structural and Functional Characterization of Four Novel Fibrinogen Mutations in <i>FGB</i> Causing Congenital Fibrinogen Disorder

Structural and Functional Characterization of Four Novel Fibrinogen Mutations in <i>FGB</i> Causing Congenital Fibrinogen Disorder

Congenital fibrinogen disorders are caused by mutations in genes coding for fibrinogen and may lead to various clinical phenotypes. Here, we present a functional and structural analysis of 4 novel variants located in the <i>FGB</i> gene coding for fibrinogen Bβ chain-heterozygous missens...

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Bibliographic Details
Main Authors: Eliška Ceznerová, Jiřina Kaufmanová, Žofie Sovová, Jana Štikarová, Jan Loužil, Roman Kotlín, Jiří Suttnar
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:International Journal of Molecular Sciences
Subjects:
congenital fibrinogen disorder
<i>FGB</i>
hypofibrinogenemia
afibrinogenemia
dysfibrinogenemia
functional assays
Online Access:https://www.mdpi.com/1422-0067/23/2/721

Internet

https://www.mdpi.com/1422-0067/23/2/721

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