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

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Human mutation - 1 Feb 2005

Levran Orna, Diotti Raffaella, Pujara Kanan, Batish Sat D, Hanenberg Helmut, Auerbach Arleen D

Abstract excerpt

Fanconi anemia (FA) is an autosomal recessive disorder that is defined by cellular hypersensitivity to DNA cross-linking agents, and is characterized clinically by developmental abnormalities, progressive bone-marrow failure, and predisposition to leukemia and solid tumors. There is extensive genetic heterogeneity, with at least 11 different FA complementation groups. FA-A is the most common group, accounting for...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fanconi Anemia

Share to Fanconi Anemia Complementation Group A Protein

Share to Genetic Testing

Share to Registries

Share to RNA Splicing

Share to Sequence Deletion

Source

Identifiers

PMID: 15643609
DOI: 10.1002/humu.20125

Genes

FANCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.PMID 15643609Read ↗

Global and disease-associated genetic variation in the human Fanconi anemia gene family.Semantic proximity Read ↗

Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.Semantic proximity Read ↗

Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.Semantic proximity Read ↗

Profiling Fanconi Anemia Gene Mutations among Iranian Patients.Semantic proximity Read ↗

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.Semantic proximity Read ↗

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.Semantic proximity Read ↗

In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.Semantic proximity Read ↗

Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome SequencingSemantic proximity Read ↗

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.Semantic proximity Read ↗

Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect.Semantic proximity Read ↗

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.Semantic proximity Read ↗

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.Semantic proximity Read ↗

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