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收藏Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts
Ohguchi, Yuka; Nomura, Toshifumi; Suzuki, Shotaro; Takeda, Masae; Miyauchi, Toshinari; Mizuno, Osamu; Shinkuma, Satoru; Fujita, Yasuyuki; Nemoto, Osamu; Ono, Kota; McLean, W. H. Irwin; Shimizu, Hiroshi
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收藏Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate
Nomura, Toshifumi; Yoneta, Akihiro; Pohler, Elizabeth; Suzuki, Shotaro; Osawa, Rinko; Mizuno, Osamu; Ohguchi, Yuka; Nomura, Yukiko; Yamashita, Toshiharu; McLean, W. H. Irwin; Shimizu, Hiroshi
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收藏Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis
Mizuno, O.; Nomura, T.; Suzuki, S.; Takeda, M.; Ohguchi, Y.; Fujita, Y.; Nishie, W.; Sugiura, K.; Akiyama, M.; Shimizu, H.
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收藏Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis
Mizuno, O.; Nomura, T.; Ohguchi, Y.; Suzuki, S.; Nomura, Y.; Hamade, Y.; Hoshina, D.; Sandilands, A.; Akiyama, M.; McLean, W. H. I.; Abe, R.; Shimizu, H.
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收藏Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations
Kono, M.; Nomura, T.; Ohguchi, Y.; Mizuno, O.; Suzuki, S.; Tsujiuchi, H.; Hamajima, N.; McLean, W. H. I.; Shimizu, H.; Akiyama, M.
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