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ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

BACKGROUND: Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this syndrome. Nevertheless, the mo...

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Detalles Bibliográficos
Autores principales:	Menotta, Michele, Biagiotti, Sara, Spapperi, Chiara, Orazi, Sara, Rossi, Luigia, Chessa, Luciana, Leuzzi, Vincenzo, D’Agnano, Daniela, Soresina, Annarosa, Micheli, Roberto, Magnani, Mauro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498894/ https://www.ncbi.nlm.nih.gov/pubmed/28679388 http://dx.doi.org/10.1186/s13023-017-0669-2

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