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Fentanyl overdose in a female with the FMR1 premutation and FXTAS

Fragile X-associated tremor/ataxia syndrome (FXTAS) affects individuals with 55–200 CGG repeats (premutation) in the 5’-untranslated region of the fragile X mental retardation 1 (FMR1) gene. FXTAS is a progressive neurodegenerative disorder associated with an action tremor, cerebellar ataxia memory...

詳細記述

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書誌詳細
出版年:J Mol Genet (Isleworth)
主要な著者: El-Deeb, Marwa, Adams, Patrick, Schneider, Andrea, Salcedo-Arellano, Maria J, Tassone, Flora, Hagerman, Randi
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6482838/
https://ncbi.nlm.nih.gov/pubmed/31032490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.31038/JMG.1000101
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