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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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Veröffentlicht in:F1000Res
Hauptverfasser: Molinari, Elisa, Srivastava, Shalabh, Sayer, John A., Ramsbottom, Simon A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: F1000Research 2017
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Online Zugang: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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