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Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families

Sandoval, N. ; Platzer, M. ; Rosenthal, A. ; Dörk, T. ; Bendix, R. ; Skawran, B. ; Stuhrmann, M. ; Wegner, R. D. ; Sperling, K. ; Banin, S. ; Shiloh, Y. ; Baumer, A. ; Bernthaler, U. ; Sennefelder, H. ; Brohm, M. ; Weber, Bernhard H. F. ; Schindler, D.


Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer predisposition. The gene mutated in AT, designated the ATM gene, encodes a large protein kinase with a PI-3 kinase-related domain. In this study, we investigated the mutational spectrum of the ATM gene in a cohort of AT patients living in Germany. We ...


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