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Article

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

Disease markers - 1 Jan 2006

Magliozzi Monia, Piane Maria, Torrente Isabella, Sinibaldi Lorenzo, Rizzo Giovanni, Savio Camilla, Lulli Patrizia, De Luca Alessandro, Dallapiccola Bruno, Chessa Luciana

Abstract excerpt

The gene for ataxia-telangiectasia (A-T:MIM: #208900), ATM, spans about 150 kb of genomic DNA and is composed of 62 coding exons. ATM mutations are found along the entire coding sequence of the gene, without evidence of mutational hot spots. Using DNA as the starting material, we used denaturing...

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Source

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Identifiers

PMID: 17124347
DOI: 10.1155/2006/740493
PMCID: PMC3862285

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17124347-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.PMID 17124347Read ↗

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