Using a polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) assay, which amplifies individually all coding exons of the ATM gene deficient ataxia-telangiectasia (A-T), we ...
The ATM gene (mutated in the disease ataxia telangiectasia) activates the p53 tumor suppressor protein in response to DNA damage, explaining the higher incidence of cancer in AT patients.
ataxia-telangiectasia-like disorder, Nijmegen breakage syndrome and Alzheimer's disease) exhibit defects in genes involved in repairing double-strand breaks. The current overall picture indicates ...
Jonatan, 14, lives with ataxia telangiectasia, a rare neurological disorder that affects the part of the brain controlling motor movement. The teen, who was born in Ireland to Polish parents and ...