Cargando…
Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype
Fibrinogen is a hexameric plasmatic glycoprotein composed of pairs of three chains (Aα, Bβ, and γ), which play an essential role in hemostasis. Conversion of fibrinogen to insoluble polymer fibrin gives structural stability, strength, and adhesive surfaces for growing blood clots. Equally important,...
Autores principales: | Simurda, Tomas, Brunclikova, Monika, Asselta, Rosanna, Caccia, Sonia, Zolkova, Jana, Kolkova, Zuzana, Loderer, Dusan, Skornova, Ingrid, Hudecek, Jan, Lasabova, Zora, Stasko, Jan, Kubisz, Peter |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369898/ https://www.ncbi.nlm.nih.gov/pubmed/32610551 http://dx.doi.org/10.3390/ijms21134616 |
Ejemplares similares
-
Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders
por: Simurda, Tomas, et al.
Publicado: (2017) -
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
por: Simurda, Tomas, et al.
Publicado: (2021) -
A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype
por: Simurda, Tomas, et al.
Publicado: (2020) -
Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and Thrombosis
por: Brunclikova, Monika, et al.
Publicado: (2022) -
Basic Principles of Rotational Thromboelastometry (ROTEM(®)) and the Role of ROTEM—Guided Fibrinogen Replacement Therapy in the Management of Coagulopathies
por: Drotarova, Miroslava, et al.
Publicado: (2023)