Functional characterization and targeted correction of atm mutations identified in japanese patients with ataxia-telangiectasia

Human Mutation

Volumn 33, Issue 1, 2012, Pages 198-208

  Nakamura, Kotoka ^a   Du, Liutao ^a   Tunuguntla, Rashmi ^a   Fike, Francesca ^a   Cavalieri, Simona ^b   Morio, Tomohiro ^c   Mizutani, Shuki ^c   Brusco, Alfredo ^b   Gatti, Richard A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF TURIN   (Italy)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Ataxia telangiectasia; ATM; Functional analysis of DNA variants; Japanese ATM mutation; Large genomic deletions; Mutationtargeted therapy

Indexed keywords

AMINOGLYCOSIDE; ANTIBIOTIC G 418; ANTISENSE OLIGONUCLEOTIDE; ATM PROTEIN; MORPHOLINO OLIGONUCLEOTIDE; RTC 13; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA TELANGIECTASIA; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STRESS; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE TARGETING; GENE THERAPY; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; JAPANESE; LYMPHOBLASTOID CELL LINE; MUTATION TARGETED THERAPY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; WILD TYPE;

AMINOGLYCOSIDES; ASIAN CONTINENTAL ANCESTRY GROUP; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CELL CYCLE PROTEINS; CELL LINE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; FRAMESHIFT MUTATION; GENTAMICINS; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MOLECULAR TARGETED THERAPY; MORPHOLINOS; OLIGODEOXYRIBONUCLEOTIDES, ANTISENSE; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; RNA SPLICING; SEQUENCE DELETION; T-LYMPHOCYTES; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 84857486516     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21632     Document Type: Article

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