Ataxia-telangiectasia gene and its genomic organization

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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536 235, 935 77, 935 78, C12Q 168, C07H 2104

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058586610

ABSTRACT:
A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia and its genomic organization is disclosed. Methods and a kit for the detection of carriers of mutations of the ATM gene are provided by analysis of nucleic acids isolated from patients including in situ hybridization, Northern blotting and reverse transcriptase--polymerase chain reaction, Southern blotting, single strand conformational polymorphism, restriction endonuclease fingerprinting (REF), PCR amplification and DNA-chip analysis.

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