Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report.
Mansouri N et al.
Iranian Journal of Medical Sciences, 2023
Cav1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation.
Sadeh TT et al.
Frontiers in Cell and Developmental Biology, 2023
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Zhang J et al.
Gene, 2019
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