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NAKANISHI Hiroshi , OHTSUBO Masafumi , IWASAKI Satoshi , HOTTA Yoshihiro , USAMI Shin-ichi , MIZUTA Kunihiro , MINETA Hiroyuki , MINOSHIMA Shinsei

Journal of human genetics 56(7), 484-490, 2011-07-01

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NAKANISHI Hiroshi , IWASAKI Satoshi , TAKIZAWA Yoshinori , HASHIMOTO Yasuyuki , MIZUTA Kunihiro , MINETA Hiroyuki

… We conducted a mutation analysis of USH2A, one of the disease-causing genes of USH2, and identified c.8559-2A>G and p.Trp3150X in a heterozygous state in a USH patient. … Because the patient had no history of noise exposure, ototoxic medication, or ultraviolet exposure, modifier genes were likely to have influenced the atypical phenotype with USH2A mutations. …

Practica Oto-Rhino-Laryngologica 103(5), 413-419, 2010-05-01

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