Article
Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.
Human mutation - 1 Feb 2003
Angèle Sandra, Laugé Anthony, Fernet Marie, Moullan Norman, Beauvais Pierre, Couturier Jérôme, Stoppa-Lyonnet Dominique, Hall Janet
Abstract excerpt
Most disease-causing mutations in Ataxia telangiectasia (AT) patients correspond to truncating mutations in the ATM gene with very few cases of AT patients carrying two missense sequence alterations being reported. The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A...
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