Discovery of a Novel Missense Mutation in the RIMS1 Gene Potentially Enhances the Severity of Retinitis Pigmentosa (RP) Caused by RP1 Mutation in Humans
José M. Lázaro-Guevara, Karen M. Garrido-Lopez, Laura Sofía Reyna Soberanis, Maria A. Sandoval-Vargas, Bryan-Josué Flores-Robles, José Luis Téllez-Arreola
The paper identifies a novel RIMS1 missense mutation that interacts with RP1 mutations to enhance retinitis pigmentosa severity in a family cohort.
Gene Reports · Feb 13, 2025Peer-reviewedGenetic & Genomic Medicine