Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Nakamura, Kotoka

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