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

doi:10.1016/j.jaci.2011.03.052

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Article

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

The Journal of allergy and clinical immunology - 1 Aug 2011

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

Abstract excerpt

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, infections, and cancers. OBJECTIVE: We studied A-T progression and investigated whether manifestations were associated...

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PMID: 21665257
DOI: 10.1016/j.jaci.2011.03.052

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