Article

R354X Mutation in PRPF31 Affects Its Capacity in Inflammation Response and Splicing

2021-12-29

Abstract excerpt

Pre-mRNA processing factor 31(PRPF31) is a key component of RNA splicing and also a disease-causing gene of Retinitis Pigmentosa (RP). Previously, we found that the nonsense mutation R354X in PRPF31induces RP in a Chinese RP family. In order to investigate the underlining molecular mechanisms of RP pathogenesis induced by this mutation, we generated cell lines stably expressing R354X mutant, wild type (WT) of PRPF...

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Literature Corpus work: 39addf32-9324-5284-8b78-60e92409dbf7
DOI: 10.21203/rs.3.rs-1133139/v1

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