Article
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
Molecular vision - 29 Jun 2007
Ando Yuichiro, Ohmori Masayuki, Ohtake Hideki, Ohtoko Kuniyo, Toyama Shigeru, Usami Ron, O'hira Aya, Hata Hiromi, Yanashima Kenji, Kato Seishi
Abstract excerpt
PURPOSE: To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP. METHODS: The entire region of RHO locus including a promoter region and introns was sequenced using blood-derived genomic DNA samples donated by 68 patients with RP and 68 control subjects. RESULTS: We found 39 single...
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