Article
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.
Japanese journal of ophthalmology - 1 Jul 2018
Maeda Akiko, Yoshida Akiko, Kawai Kanako, Arai Yuki, Akiba Ryutaro, Inaba Akira, Takagi Seiji, Fujiki Ryoji, Hirami Yasuhiko, Kurimoto Yasuo, Ohara Osamu, Takahashi Masayo
Abstract excerpt
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population....
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