Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder.

International journal of molecular sciences - 10 Jan 2022

Ceznerová Eliška, Kaufmanová Jiřina, Sovová Žofie, Štikarová Jana, Loužil Jan, Kotlín Roman, Suttnar Jiří

Abstract excerpt

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 BβA68S, homozygous nonsense BβY345*, and heterozygous nonsense BβW403* mutations. The cases were identified by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Afibrinogenemia
Share to Blood Coagulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Blood Coagulation Tests

Share to Fibrinogen

Share to Infant, Newborn

Share to Models, Molecular

Share to Protein Conformation

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 35054908
DOI: 10.3390/ijms23020721
PMCID: PMC8775743

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder.PMID 35054908Read ↗

A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.Semantic proximity Read ↗

Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative.Semantic proximity Read ↗

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.Semantic proximity Read ↗

Identification and characterization of novel mutations implicated in congenital fibrinogen disordersSemantic proximity Read ↗

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders.Semantic proximity Read ↗

Functional and structural consequences of fibrinogen γ-chain variants associated with thrombotic phenotype in congenital fibrinogen disorders.Semantic proximity Read ↗

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.Semantic proximity Read ↗

A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding PhenotypeSemantic proximity Read ↗

Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations.Semantic proximity Read ↗

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.Semantic proximity Read ↗

Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.Semantic proximity Read ↗

Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.