Genetic Mutations in Non-Coding RNAs Linked to Retinitis Pigmentosa and Sight Loss
TL;DR Summary
The study identifies de novo and inherited variants in U4 and U6 snRNA genes as causes of autosomal dominant retinitis pigmentosa, expanding the genetic landscape of the disease and highlighting the role of noncoding RNA mutations in retinal degeneration.
Topics:health#genetic-diagnosis#genetics#retinitis-pigmentosa#snrna-variants#spliceosome#u4-u6-snrna-genes
- De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa Nature
- Genetic study uncovers unknown causes of blindness Medical Xpress
- Non-coding RNA mutations unveiled as new cause of retinitis pigmentosa News-Medical
- Scientists find new genetic causes of sight loss that could provide answers for thousands of patients genomicsengland.co.uk
- Cause for Progressive Blindness Identified Genetic Engineering and Biotechnology News
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