Article
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Human molecular genetics - 1 Jan 1999
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 B H, Schindler D
Abstract excerpt
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 i...
Topics
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Base Sequence
- Cell Cycle Proteins
- Cell Line
- Cohort Studies
- DNA Mutational Analysis
- DNA Primers
- DNA-Binding Proteins
- Female
- Genetic Variation
- Germany
- Humans
- Male