Article

From disease modelling to personalised therapy in patients with CEP290 mutations

2017-05-12

Abstract excerpt

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 not from degradation, but from changes in exon usage. We also commen...

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Literature Corpus work: 6edc0147-417d-5180-8fd9-74096f3927ae
DOI: 10.12688/f1000research.11553.1

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