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Article

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

European journal of human genetics : EJHG - 1 Jul 2013

Cavalieri Simona, Pozzi Elisa, Gatti Richard A, Brusco Alfredo

Abstract excerpt

Recent development of next-generation DNA sequencing (NGS) techniques is changing the approach to search for mutations in human genetic diseases. We applied NGS to study an A-T patient in which one of the two expected mutations was not found after DHPLC, cDNA sequencing and MLPA screening. The 160-kb ATM genomic region was divided into 31 partially overlapping fragments of 4-6 kb and amplified by long-range PCR...

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Identifiers

PMID: 23211698
DOI: 10.1038/ejhg.2012.266
PMCID: PMC3722957

Genes

ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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