Morbidity and mortality from ataxia-telangiectasia are associated withATMgenotype

Background Ataxia-telangiectasia (A-T) is a rare genetic disease caused by germline biallelic mutations in the ataxia-telangiectasia mutated gene(ATM)that result in partial or complete loss of ATM expression or activity. The course of the disease is characterized by neurologic manifestations, infect...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2011-08, Vol.128 (2), p.382
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Genes Kinases Mortality Mutation
Online-Zugang:	Volltext
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