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The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline and premature death. Currently, there are over 400 known mutations in 14 different...
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| Pubblicato in: | Hum Mol Genet |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4439521/ https://ncbi.nlm.nih.gov/pubmed/23539563 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt120 |
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