Cargando…
Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and Thrombosis
Congenital fibrinogen disorders are diseases associated with a bleeding tendency; however, there are also reports of thrombotic events. Fibrinogen plays a role in the pathogenesis of thrombosis due to altered plasma concentrations or modifications to fibrinogen’s structural properties, which affect...
Autores principales: | Brunclikova, Monika, Simurda, Tomas, Zolkova, Jana, Sterankova, Miroslava, Skornova, Ingrid, Dobrotova, Miroslava, Kolkova, Zuzana, Loderer, Dusan, Grendar, Marian, Hudecek, Jan, Stasko, Jan, Kubisz, Peter |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874973/ https://www.ncbi.nlm.nih.gov/pubmed/35207353 http://dx.doi.org/10.3390/jcm11041083 |
Ejemplares similares
-
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) -
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
por: Simurda, Tomas, et al.
Publicado: (2020) -
Multimer Analysis of Von Willebrand Factor in Von Willebrand Disease with a Hydrasys Semi-Automatic Analyzer—Single-Center Experience
por: Skornova, Ingrid, et al.
Publicado: (2021) -
Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders
por: Simurda, Tomas, et al.
Publicado: (2017)