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Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila

Retinitis pigmentosa (RP) is a clinically heterogeneous disease affecting 1.6 million people worldwide. The second-largest group of genes causing autosomal dominant RP in human encodes regulators of the splicing machinery. Yet, how defects in splicing factor genes are linked to the aetiology of the...

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Publicat a:Biol Open
Autors principals: Hebbar, Sarita, Lehmann, Malte, Behrens, Sarah, Hälsig, Catrin, Leng, Weihua, Yuan, Michaela, Winkler, Sylke, Knust, Elisabeth
Format: Artigo
Idioma:Inglês
Publicat: The Company of Biologists Ltd 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7860132/
https://ncbi.nlm.nih.gov/pubmed/33495354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/bio.052332
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