Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB 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 FGB gene coding for fibrinogen Bβ chain-heterozygous missense BβY416C and BβA68...

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Detalles Bibliográficos
Autores principales: Ceznerová, Eliška, Kaufmanová, Jiřina, Sovová, Žofie, Štikarová, Jana, Loužil, Jan, Kotlín, Roman, Suttnar, Jiří
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775743/
https://www.ncbi.nlm.nih.gov/pubmed/35054908
http://dx.doi.org/10.3390/ijms23020721

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775743/
https://www.ncbi.nlm.nih.gov/pubmed/35054908
http://dx.doi.org/10.3390/ijms23020721

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