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 transcripts of the centrosomal protein CEP290 resulting Pla