Associated Papers
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Jiang J et al.
Scientific Reports, 2017
The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo.
Rao KN et al.
Biology Open, 2016
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.
Ghosh AK et al.
Human Molecular Genetics, 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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