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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, RD, Sperling, K, Banin, S, Shiloh, Y, Baumer, A, Bernthaler, U, Sennefelder, H, Brohm, M, Weber, Bernhard H. F. and Schindler, D (1999) Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families. Human Molecular Genetics 8 (1), pp. 69-79.

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Abstract

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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Item type:Article
Date:1999
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1093/hmg/8.1.69DOI
9887333PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35449
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