Ataxia-telangiectasia gene and its genomic organization

Details Ataxia-telangiectasia gene and its genomic organization Ataxia-telangiectasia gene and its genomic organization

C - Chemistry, Metallurgy

12

N

C12N 15/54 (2006.01) C07K 14/47 (2006.01) C12N 9/12 (2006.01) C12Q 1/48 (2006.01) C12Q 1/68 (2006.01) G01N 33/573 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2217969

A purified and isolated gene, designated ATM, mutations of which cause ataxia- telangiectasia, its genomic organization, methods for the detection of the defective gene, the purified polypeptide encoded by the defective gene, and antibodies recognizing the defective protein.

L'invention porte sur un gène purifié et isolé dit ATM dont les mutations sont à l'origine de l'ataxia-télangiéctasie, sur son organisation génomique, sur les méthodes de détection du gène défectueux, sur un polypeptide purifié codé par le gène défectueux, et sur des anticorps reconnaissant la protéine défectueuse.

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