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

PCR-mediated detection of a polymorphism in the ATM gene.

Molecular and cellular probes - 1 Feb 1999

Maillet P, Vaudan G, Chappuis P, Sappino A

Abstract excerpt

In this report, the frequency of the G-->A transition polymorphism at nucleotide 5557 in exon 39 of the coding sequence of the gene mutated in ataxia-telangiectasia (ATM) was analysed. The frequency of the A and G alleles was estimated in the general population at 0. 15 and 0.85, respectively. This polymorphism can be identified by single-strand conformation polymorphism (SSCP) and by a simple and rapid Dde I...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia Telangiectasia
Share to Ataxia Telangiectasia Mutated Proteins
Share to Cell Cycle Proteins

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

Share to Deoxyribonucleases, Type II Site-Specific

Share to Mutagenesis, Site-Directed

Share to Polymorphism, Single-Stranded Conformational

Share to Reference Values

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 10024435
DOI: 10.1006/mcpr.1998.0219

Genes

ATM

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

PCR-mediated detection of a polymorphism in the ATM gene.PMID 10024435Read ↗

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

A frequent polymorphism of the gene mutated in ataxia telangiectasia.Semantic proximity Read ↗

Comprehensive scanning of the ATM gene with DOVAM-S.Semantic proximity Read ↗

Rapid molecular diagnosis of ataxia-telangiectasia by optimised RT-PCR and direct sequencing analysis.Semantic proximity Read ↗

Molecular defects in Moroccan patients with ataxia-telangiectasia.Semantic proximity Read ↗

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.Semantic proximity Read ↗

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

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.Semantic proximity Read ↗

New mutations in the ataxia telangiectasia gene.Semantic proximity Read ↗

ATM mutation in a patient with thymoma-associated myasthenia gravis.Semantic proximity Read ↗

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.Semantic proximity Read ↗

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.Semantic proximity Read ↗

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