Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, 060-8638, Sapporo, Japan.
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Suzuki
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, 060-8638, Sapporo, Japan.
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Nomura
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, 060-8638, Sapporo, Japan.
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Mizuno
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, 060-8638, Sapporo, Japan.
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Fujita
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, 060-8638, Sapporo, Japan.
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Shimizu
D005091:Exons / Q000235:genetics; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D015843:Serpins / Q000235:genetics*
C114170:SERPINB7 protein, human; D015843:Serpins