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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

✍ Scribed by Micol, Romain; Ben Slama, Lilia; Suarez, Felipe; Le Mignot, Loïc; Beauté, Julien; Mahlaoui, Nizar; Dubois d’Enghien, Catherine; Laugé, Anthony; Hall, Janet; Couturier, Jérôme; Vallée, Louis; Delobel, Bruno; Rivier, François; Nguyen, Karine; Billette de Villemeur, Thierry; Stephan, Jean-Louis; Bordigoni, Pierre; Bertrand, Yves; Aladjidi, Nathalie; Pedespan, Jean-Michel; Thomas, Caroline; Pellier, Isabelle; Koenig, Michel; Hermine, Olivier; Picard, Capucine; Moshous, Despina; Neven, Bénédicte; Lanternier, Fanny; Blanche, Stéphane; Tardieu, Marc; Debré, Marianne; Fischer, Alain; Stoppa-Lyonnet, Dominique


Book ID
119285296
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
393 KB
Volume
128
Category
Article
ISSN
1097-6825

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## Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clinical and laboratory data of 51 genetically prov