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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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| Опубликовано в: : | Orphanet J Rare Dis |
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| Главные авторы: | , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2017
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| Предметы: | |
| 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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