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Article

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Neuromolecular medicine - 1 Mar 2017

Carranza Diana, Vega Ana Karina, Torres-Rusillo Sara, Montero Enrique, Martinez Luis Javier, Santamaría Manuel, Santos Juan Luis, Molina Ignacio J

Abstract excerpt

Ataxia-telangiectasia is a multisystemic disease with severe neurological affectation, immunodeficiency and telangiectasia. The disorder is caused by alterations in the ATM gene, whose size and complexity make molecular diagnosis difficult. We designed a target-enrichment next-generation sequencing strategy to characterize 28 patients from several regions of Spain. This approach allowed us to identify gene...

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Identifiers

PMID: 27664052
DOI: 10.1007/s12017-016-8440-8

Genes

ATM

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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.

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Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.PMID 27664052Read ↗

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