Article
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics - 1 Nov 2011
Demuth Ilja, Dutrannoy Véronique, Marques Wilson, Neitzel Heidemarie, Schindler Detlev, Dimova Petja S, Chrzanowska Krystyna H, Bojinova Veneta, Gregorek Hanna, Graul-Neumann Luitgard M, von Moers Arpad, Schulze Ilka, Nicke Marion, Bora Elcin, Cankaya Tufan, Oláh Éva, Kiss Csongor, Bessenyei Beáta, Szakszon Katalin, Gruber-Sedlmayr Ursula, Kroisel Peter Michael, Sodia Sigrun, Goecke Timm O, Dörk Thilo, Digweed Martin, Sperling Karl, de Sá Joaquim, Lourenco Charles Marques, Varon Raymonda
Abstract excerpt
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, oculocutaneous telangiectasias, chromosomal instability, radiosensitivity, and cancer predisposition. The gene mutated in the patients, ATM, encodes a member of the phosphatidylinositol 3-kinase family proteins. The ATM protein has a key role in the cellular response to DNA damage. Truncating...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.