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Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.

Daiki SakaiMasakazu HiraokaMitsuhiro MatsuzakiSatoshi YokotaYasuhiko HiramiAkishi OnishiMakoto NakamuraMasayo TakahashiYasuo KurimotoAkiko Maeda
Published in: Japanese journal of ophthalmology (2023)
Patients with class A variants presented with a severer form of RP than that of patients with class B variants in the Japanese population. These results suggest that the phenotype of RHO-associated RP is linked to the location of the variants and that such a genotype-phenotype correlation is less affected by ethnicities with different genetic backgrounds.
Keyphrases
  • copy number
  • genome wide
  • protein kinase