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Human Mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 198 - 208
A recent challenge for investigators studying the progressive neurological disease ataxia‐telangiectasia (A‐T) is to identify mutations whose effects might be... 
ataxia‐telangiectasia | mutation‐targeted therapy | ATM | functional analysis of DNA variants | large genomic deletions | Japanese ATM mutation | Large genomic deletions | Ataxia-telangiectasia | Functional analysis of DNA variants | Mutationtargeted therapy | POPULATION | ACTIVATION | DNA-DAMAGE | HAPLOTYPES | 55-PERCENT | ataxia-telangiectasia | GENE | EXONIC SPLICING ENHANCERS | FAMILIES | VIVO-MORPHOLINOS | GENETICS & HEREDITY | mutation-targeted therapy | AUTOPHOSPHORYLATION | Sequence Deletion | Frameshift Mutation | Oligodeoxyribonucleotides, Antisense - pharmacology | Exons | Humans | Morpholinos - therapeutic use | Molecular Sequence Data | Molecular Targeted Therapy | RNA Splicing | DNA-Binding Proteins - agonists | T-Lymphocytes - metabolism | DNA Mutational Analysis | Gentamicins - pharmacology | T-Lymphocytes - drug effects | Base Sequence | Tumor Suppressor Proteins - genetics | Cell Cycle Proteins - genetics | Ataxia Telangiectasia - drug therapy | T-Lymphocytes - pathology | Cell Line | Gentamicins - therapeutic use | Protein-Serine-Threonine Kinases - genetics | Oligodeoxyribonucleotides, Antisense - therapeutic use | Ataxia Telangiectasia Mutated Proteins | Cell Cycle Proteins - agonists | Codon, Nonsense | DNA-Binding Proteins - genetics | Asian Continental Ancestry Group | Pedigree | Morpholinos - pharmacology | Ataxia Telangiectasia - genetics | Heterozygote | Aminoglycosides - pharmacology | Tumor Suppressor Proteins - agonists | Aminoglycosides - therapeutic use
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