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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
Autori principali: Miller, Jake N., Chan, Chun-Hung, Pearce, David A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2013
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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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