Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.
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- Jan 21, 2021
SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
The SNRNP200 gene plays a key role in the maturation of pre-mRNA splicing with the indication for the etiology of retinitis pigmentosa (RP).
- Mar 22, 2020
Approaches to Characterize novel pathogenic missense Variants in PRPF31
RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.
- Jul 1, 2019
Retinitis pigmentosa caused by variants in SNRNP200
SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP).
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