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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...
Autores principales: | Ceznerová, Eliška, Kaufmanová, Jiřina, Sovová, Žofie, Štikarová, Jana, Loužil, Jan, Kotlín, Roman, Suttnar, Jiří |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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