A Novel Nonsense Mutation in FGB (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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Detalles Bibliográficos
Autores principales: Simurda, Tomas, Vilar, Rui, Zolkova, Jana, Ceznerova, Eliska, Kolkova, Zuzana, Loderer, Dusan, Neerman-Arbez, Marguerite, Casini, Alessandro, Brunclikova, Monika, Skornova, Ingrid, Dobrotova, Miroslava, Grendar, Marian, Stasko, Jan, Kubisz, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763967/
https://www.ncbi.nlm.nih.gov/pubmed/33322159
http://dx.doi.org/10.3390/biomedicines8120605

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