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

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-k...

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Detalhes bibliográficos
Main Authors: Cavalieri, Simona, Pozzi, Elisa, Gatti, Richard A, Brusco, Alfredo
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722957/
https://ncbi.nlm.nih.gov/pubmed/23211698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.266
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