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From disease modelling to personalised therapy in patients with CEP290 mutations

Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated decay. Here we discuss observed changes in transcr...

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Библиографические подробности
Опубликовано в: :F1000Res
Главные авторы: Molinari, Elisa, Srivastava, Shalabh, Sayer, John A., Ramsbottom, Simon A.
Формат: Artigo
Язык:Inglês
Опубликовано: F1000Research 2017
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5482330/
https://ncbi.nlm.nih.gov/pubmed/28690834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.11553.1
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