From disease modelling to personalised therapy in patients with CEP290 mutations [version 1; referees: 2 approved]

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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Bibliographic Details
Main Authors: Elisa Molinari, Shalabh Srivastava, John A. Sayer, Simon A. Ramsbottom
Format: Article
Language:English
Published: F1000 Research Ltd 2017-05-01
Series:F1000Research
Subjects:
Online Access:https://f1000research.com/articles/6-669/v1