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

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders.

International journal of molecular sciences - 29 Dec 2017

Simurda Tomas, Zolkova Jana, Snahnicanova Zuzana, Loderer Dusan, Skornova Ingrid, Sokol Juraj, Hudecek Jan, Stasko Jan, Lasabova Zora, Kubisz Peter

Abstract excerpt

Congenital fibrinogen disorders are caused by mutations in one of the three fibrinogen genes that affect the synthesis, assembly, intracellular processing, stability or secretion of fibrinogen. Functional studies of mutant Bβ-chains revealed the importance of individual residues as well as three-dimensional structures for fibrinogen assembly and secretion. This study describes two novel homozygous fibrinogen Bβ...

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 Tests

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

Share to Family

Share to Fibrinogen

Share to Fibrinogens, Abnormal

Share to Hemorrhage

Share to Protein Structure, Secondary

Share to Venous Thrombosis

Source

Open in PubMed Open full text

Identifiers

PMID: 29286337
DOI: 10.3390/ijms19010100
PMCID: PMC5796050

Genes

FGB
FGA
FGG

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

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders.PMID 29286337Read ↗

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

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

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.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 ↗

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

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.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 ↗

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.Semantic proximity Read ↗

The molecular basis of quantitative fibrinogen disorders.Semantic proximity Read ↗

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

Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications.Semantic proximity Read ↗

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.Semantic proximity Read ↗

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