Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. [electronic resource]
- Human mutation Jan 2012
- 198-208 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.21632 doi
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