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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Detalles Bibliográficos
Autores principales: Molinari, Elisa, Srivastava, Shalabh, Sayer, John A., Ramsbottom, Simon A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2017
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482330/
https://www.ncbi.nlm.nih.gov/pubmed/28690834
http://dx.doi.org/10.12688/f1000research.11553.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482330/
https://www.ncbi.nlm.nih.gov/pubmed/28690834
http://dx.doi.org/10.12688/f1000research.11553.1

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