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

European Journal of Human Genetics

Volumn 21, Issue 7, 2013, Pages 774-778

  Cavalieri, Simona ^a   Pozzi, Elisa ^a   Gatti, Richard A ^b   Brusco, Alfredo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

antisense oligonucleotide; ataxia telangiectasia; ATM; deep intronic mutations; next generation sequencing

Indexed keywords

ANTISENSE MORPHOLINO OLIGONUCLEOTIDE; ATM PROTEIN; COMPLEMENTARY DNA; MORPHOLINO OLIGONUCLEOTIDE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; DNA SEQUENCE; EXON; GENE MUTATION; GENE SEQUENCE; GENOME; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; LYMPHOBLAST; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; STOP CODON;

ATAXIA TELANGIECTASIA; BASE SEQUENCE; CELL CYCLE PROTEINS; CELL LINE; DNA, ANTISENSE; DNA-BINDING PROTEINS; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MORPHOLINOS; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RNA SPLICE SITES; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 84879409948     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.266     Document Type: Article

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