Article
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
European journal of human genetics : EJHG - 1 Mar 2012
Jacquemin Virginie, Rieunier Guillaume, Jacob Sandrine, Bellanger Dorine, d'Enghien Catherine Dubois, Laugé Anthony, Stoppa-Lyonnet Dominique, Stern Marc-Henri
Abstract excerpt
Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immune defects and predisposition to malignancies. A-T is caused by biallelic inactivation of the ATM gene, in most cases by frameshift or nonsense mutations. More rarely, ATM missense mutations with unknown consequences on ATM function are found, making definitive...
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