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

A novel fibrinogen γ chain frameshift deletion (c.637delT) in a patient with hypodysfibrinogenemia associated with thrombosis.

Hamostaseologie - 1 Jan 2015

Ivaškevičius V, Thomas A, Biswas A, Ensikat H, Schmitt U, Horneff S, Pavlova A, Poetzsch B, Oldenburg J

Abstract excerpt

UNLABELLED: Inherited fibrinogen (FG) disorders are rare and result in quantitative or/and qualitative FG deficiency. While the majority of patients with clinically relevant FG deficiencies demonstrate a bleeding phenotype, a subset of patients are at increased risk of thrombosis. PATIENTS AND METHODS: We report a 54-years old man presenting with a thrombophilic phenotype characterized by two episodes of...

Read the complete abstract on PubMed

Topics

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

Share to Afibrinogenemia
Share to Fibrinogens, Abnormal

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

Share to Frameshift Mutation

Share to Gene Deletion

Share to FGG gene

Share to SDS gene

Share to Genetic Predisposition to Disease

Share to Thrombosis

Source

Identifiers

PMID: 26540127

Genes

SDS
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

A novel fibrinogen γ chain frameshift deletion (c.637delT) in a patient with hypodysfibrinogenemia associated with thrombosis.PMID 26540127Read ↗

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

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

Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180+2 del), leads to N-terminal truncation of fibrinogen Aα chain and impairs fibrin polymerization.Semantic proximity Read ↗

Risk of bleeding and thrombosis in inherited qualitative fibrinogen disordersSemantic proximity Read ↗

Fibrinogen Melbourne: a novel congenital hypodysfibrinogenemia caused by γ326Cys-Phe in the fibrinogen γ chain, presenting as massive splanchnic venous thrombosis.Semantic proximity Read ↗

A novel γ-chain mutation p.Asp318His in a Chinese family with dysfibrinogenemia.Semantic proximity Read ↗

Identification of a novel splicing mutation in the fibrinogen gamma chain gene leading to dysfibrinogenaemia in a Chinese pedigree.Semantic proximity Read ↗

Congenital fibrinogen disorders: an update.Semantic proximity Read ↗

Fibrinogen Bonn (p. Arg510Cys) in the Aα-Chain Is Associated with High Risk of Venous Thrombosis.Semantic proximity Read ↗

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

Congenital Hypodysfibrinogenemia due to γ326Cys→Tyr Mutation: Third Ever-Described Case Associated with Recurrent Venous Thrombosis and COVID Vaccine.Semantic proximity Read ↗

Rare inherited disorders of fibrinogen.Semantic proximity Read ↗

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