Article
Characterization of the porcine ATM gene: towards the generation of a novel non-murine animal model for Ataxia-Telangiectasia.
Gene - 15 Dec 2007
Rogatcheva Margarita B, Fritz Krista L, Rund Laurie A, Pollock Callie B, Beever Jonathan E, Counter Christopher M, Schook Lawrence B
Abstract excerpt
Ataxia-Telangiectasia (A-T) is a genetic disorder causing cerebellar degeneration, immune deficiency, cancer predisposition, chromosomal instability and radiation sensitivity. Among the mutations responsible for A-T, 85% represent truncating mutations that result in the production of shorter, highly unstable forms of ATM (AT-mutated) protein leading to a null ATM phenotype. Several ATM-deficient mice have been...
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