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Splicing-related Retinitis Pigmentosa mutations mimicked in C. elegans allow the identification of disease modifiers and drug screens

2019-08-31

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<h4>ABSTRACT</h4> CRISPR and the high conservation of the spliceosome components facilitate the mimicking of human pathological mutations in splicing factors of model organisms. The degenerative retinal disease Retinitis Pigmentosa (RP) is caused by mutations in distinct types of genes, including missense mutations in splicing factors that provoke RP in an autosomal dominant form (s-adRP). Using CRISPR in C. ele...

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Literature Corpus work: 5f3c6634-22bb-50c5-98f4-12cdca7c9f04
DOI: 10.1101/752956

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Splicing-related Retinitis Pigmentosa mutations mimicked in <i>C. elegans</i> allow the identification of disease modifiers and drug screens

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