Associated Papers
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Zhang J et al.
Gene, 2019
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
Zhou L et al.
Experimental Eye Research, 2018
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu F et al.
The Journal of Biological Chemistry, 2017
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V et al.
Human Mutation, 2007
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