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 high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

American journal of human genetics - 1 Oct 1996

Wright J, Teraoka S, Onengut S, Tolun A, Gatti R A, Ochs H D, Concannon P

Abstract excerpt

The clinical features of the autosomal recessive disorder ataxia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and an increased susceptibility to malignancies. Epidemiological studies have suggested that AT heterozygotes may also be at increa...

Read the complete abstract on PubMed

Topics

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

Share to Proteins
Share to Cell Line
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Genetic Complementation Test

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 8808599
PMCID: PMC1914811

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8808599-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.PMID 8808599Read ↗

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.Semantic proximity Read ↗

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.Semantic proximity Read ↗

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.Semantic proximity Read ↗

New mutations in the ATM gene and clinical data of 25 AT patients.Semantic proximity Read ↗

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.Semantic proximity Read ↗

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.Semantic proximity Read ↗

Functional classification of ATM variants in ataxia‐telangiectasia patientsSemantic proximity Read ↗

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.Semantic proximity Read ↗

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.Semantic proximity Read ↗

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.Semantic proximity Read ↗

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia-Telangiectasia Patients: Introducing Three Novel MutationsSemantic proximity Read ↗

Erratum to: Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia PatientsSemantic proximity Read ↗

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