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

Fibrinogen gene mutations accounting for congenital afibrinogenemia.

Annals of the New York Academy of Sciences - 1 Jan 2001

Neerman-Arbez M

Abstract excerpt

This article reviews recent progress made in understanding the molecular basis of congenital afibrinogenemia, an autosomal recessive coagulation disorder characterized by the complete absence of detectable fibrinogen. We have identified the first causative mutations for this disorder in a non-consanguineous Swiss family; these were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain (FGA)...

Read the complete abstract on PubMed

Topics

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

Share to Afibrinogenemia
Share to Base Sequence
Share to DNA

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

Share to Fibrinogen

Share to Genetic Therapy

Share to Multigene Family

Share to Pedigree

Share to Sequence Deletion

Source

Identifiers

PMID: 11460507
DOI: 10.1111/j.1749-6632.2001.tb03536.x

Genes

FGA
FGB
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

Fibrinogen gene mutations accounting for congenital afibrinogenemia.PMID 11460507Read ↗

Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.Semantic proximity Read ↗

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.Semantic proximity Read ↗

The molecular basis of inherited afibrinogenaemia.Semantic proximity Read ↗

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.Semantic proximity Read ↗

Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemiaSemantic proximity Read ↗

Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects.Semantic proximity Read ↗

Compound Heterozygous Mutations in FGA Cause Congenital Afibrinogenemia: A Case Report and Literature Review.Semantic proximity Read ↗

Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretionSemantic proximity Read ↗

A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family.Semantic proximity Read ↗

Identification of a novel mutation in congenital afibrinogenemia in Iranian patients.Semantic proximity Read ↗

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

Molecular basis of fibrinogen deficiency.Semantic proximity Read ↗

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