Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. [electronic resource]
Producer: 20120423Description: 198-208 p. digitalISSN:- 1098-1004
- Aminoglycosides -- pharmacology
- Asian People
- Ataxia Telangiectasia -- drug therapy
- Ataxia Telangiectasia Mutated Proteins
- Base Sequence
- Cell Cycle Proteins -- agonists
- Cell Line
- Codon, Nonsense
- DNA Mutational Analysis
- DNA-Binding Proteins -- agonists
- Exons
- Frameshift Mutation
- Gentamicins -- pharmacology
- Heterozygote
- Humans
- Molecular Sequence Data
- Molecular Targeted Therapy
- Morpholinos -- pharmacology
- Oligodeoxyribonucleotides, Antisense -- pharmacology
- Pedigree
- Protein Serine-Threonine Kinases -- genetics
- RNA Splicing
- Sequence Deletion
- T-Lymphocytes -- drug effects
- Tumor Suppressor Proteins -- agonists
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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