A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa
Koji M. Nishiguchi, Kosuke Fujita, Yasuhiro Ikeda, Hiroshi Kunikata, Yoshito Koyanagi, Masato Akiyama, Toshiaki Abe, Yuko Wada, Koh‐Hei Sonoda, Toru Nakazawa
Topics & Concepts
Retinitis pigmentosaFrameshift mutationGeneticsInsertionNonsense mutationMutationAlu elementExonFounder effectCompound heterozygosityBiologyGeneMolecular biologyAlleleMissense mutationHaplotypeHuman genomeGenomeRetinal Development and DisordersOcular Disorders and TreatmentsRetinal and Macular Surgery