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Article

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

Immunobiology - 1 Jan 2005

Mancebo Esther, Pacho Arantza, de Pablos Paloma, Muñoz-Robles Jorge, Castro M José, Romo Eva, Morales Pablo, González Luis, Paz-Artal Estela, Allende Luis M

Abstract excerpt

Ataxia-telangiectasia (A-T) is a severe autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. A-T results from mutations in a single gene (ataxia-telangiectasia mutated, ATM) on chromosome 11 that encodes a 3056 amino acid protein (ATM). The purpose of this study is the design of an easy and rapid method for the...

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Identifiers

PMID: 16164035
DOI: 10.1016/j.imbio.2005.03.006

Genes

ATM

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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.

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Rapid molecular diagnosis of ataxia-telangiectasia by optimised RT-PCR and direct sequencing analysis.PMID 16164035Read ↗

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