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

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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. https://www.aitsglobal.com/product-category/banner/
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