TY  - GEN
AU  - Nakamura,Kotoka
AU  - Du,Liutao
AU  - Tunuguntla,Rashmi
AU  - Fike,Francesca
AU  - Cavalieri,Simona
AU  - Morio,Tomohiro
AU  - Mizutani,Shuki
AU  - Brusco,Alfredo
AU  - Gatti,Richard A
TI  - Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia
SN  - 1098-1004
PY  - 2012///0423
KW  - Aminoglycosides
KW  - pharmacology
KW  - Asian People
KW  - Ataxia Telangiectasia
KW  - drug therapy
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - Base Sequence
KW  - Cell Cycle Proteins
KW  - agonists
KW  - Cell Line
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Exons
KW  - Frameshift Mutation
KW  - Gentamicins
KW  - Heterozygote
KW  - Humans
KW  - Molecular Sequence Data
KW  - Molecular Targeted Therapy
KW  - Morpholinos
KW  - Oligodeoxyribonucleotides, Antisense
KW  - Pedigree
KW  - Protein Serine-Threonine Kinases
KW  - genetics
KW  - RNA Splicing
KW  - Sequence Deletion
KW  - T-Lymphocytes
KW  - drug effects
KW  - Tumor Suppressor Proteins
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.21632
ER  -