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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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| Publicado no: | F1000Res |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
F1000Research
2017
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| Assuntos: | |
| Acesso em linha: | 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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