Article
ATM Gene Mutation Detection Techniques and Functional Analysis.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2017
Rieunier Guillaume, D'Enghien Catherine Dubois, Fievet Alice, Bellanger Dorine, Stoppa-Lyonnet Dominique, Stern Marc-Henri
Abstract excerpt
Ataxia Telangiectasia (A-T) is caused by biallelic inactivation of the Ataxia Telangiectasia Mutated (ATM) gene, due to nonsense or missense mutations, small insertions/deletions (indels), splicing alterations, and large genomic rearrangements. After establishing A-T clinical diagnosis, a molecular confirmation is needed, based on the detection of one of these loss-of-function mutations in at least one allele. In...
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