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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Библиографические подробности
Опубликовано в: :Orphanet J Rare Dis
Главные авторы: Menotta, Michele, Biagiotti, Sara, Spapperi, Chiara, Orazi, Sara, Rossi, Luigia, Chessa, Luciana, Leuzzi, Vincenzo, D’Agnano, Daniela, Soresina, Annarosa, Micheli, Roberto, Magnani, Mauro
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2017
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5498894/
https://ncbi.nlm.nih.gov/pubmed/28679388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0669-2
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