8 EYSeyes shut homolog Drosophila Novel EYS gene mutants inducing Retinitis Pigmentosa and uses thereof

摘要

The present invention relates to eight EYS gene mutants available for the diagnosis of retinitis pigmentosa, a method for detecting the EYS gene mutants, a method for diagnosing retinitis pigmentosa using the EYS gene mutants, a composition for diagnosing retinitis pigmentosa, comprising an agent confirming the presence of the EYS gene mutants, and a kit for diagnosing retinitis pigmentosa comprising the composition.