Article

The role of Musashi-1 in CEP290 c.2991+1655A>G cryptic exon splicing in Leber Congenital Amaurosis

2021-08-05

Abstract excerpt

<h4>SUMMARY</h4> Human photoreceptors maximise alternative exon splicing to generate a unique set of gene isoforms. Conversely, the inclusion of a cryptic exon caused by the c.2991+1655A>G deep intronic change in CEP290 occurs in the human retina leading to Leber Congenital Amaurosis (LCA10). The RNA-binding protein Musashi-1 (MSI1) is a key component of alternative splicing in the developing mouse retina. Here...

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Literature Corpus work: 8adb0b86-27b4-56aa-8e95-0717cc7bd3e7
DOI: 10.1101/2021.08.04.454918

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