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

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2017

Casini A, Vilar R, Beauverd Y, Aslan D, Devreese K, Mondelaers V, Alberio L, Gubert C, de Moerloose P, Neerman-Arbez M

Abstract excerpt

INTRODUCTION: Congenital hypofibrinogenaemia is a quantitative fibrinogen disorder characterized by proportionally decreased levels of functional and antigenic fibrinogen. Mutations accounting for quantitative fibrinogen disorders are relatively frequent in the conserved COOH-terminal globular domains of the γ and Bβ chains. The latter mutations are of particular interest since the Bβ-chain is considered the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Afibrinogenemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrinogen

Share to Heterozygote

Share to Models, Molecular

Share to Mutation

Share to Protein Structure, Secondary

Source

Identifiers

PMID: 28306188
DOI: 10.1111/hae.13190

Genes

FGB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.PMID 28306188Read ↗

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

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

Identification of genetic variants in the FGB gene associated with congenital hypofibrinogenemia with divergent clinical 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 implicated in congenital fibrinogen disordersSemantic proximity Read ↗

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

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

A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences.Semantic proximity Read ↗

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

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

A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.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.