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

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

Abstract 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...

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Bibliographic Details
Main Authors: Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D’Agnano, Annarosa Soresina, Roberto Micheli, Mauro Magnani
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ataxia Telangiectasia
ATM
Dexamethasone
Intra-erythrocyte DEXA
ATMdexa1
Online Access:http://link.springer.com/article/10.1186/s13023-017-0669-2

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http://link.springer.com/article/10.1186/s13023-017-0669-2

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