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Three New Cases of Ataxia‐telangiectasia‐like Disorder: No Impairment of the ATM Pathway, but S‐phase Checkpoint Defect

Alice Fievet,Dorine Bellanger,Stephanie Valence,Lenha Mobuchon,Alexandra Afenjar,Fabienne Giuliano,Catherine Dubois d'Enghien,Beatrice Parfait,Jean-Michel Pedespan,Nathalie Auger,Guillaume Rieunier,Agnes Collet,Lydie Burglen,Dominique Stoppa-Lyonnet,Marc-Henri Stern

Human Mutation（2019）

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关键词
ataxia,ataxia-telangiectasia-like disorder (ATLD),ataxia-telangiectasia mutated (ATM),checkpoint,meiotic recombination 11 (MRE11),MRN
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