文献

J-GLOBAL ID：202002224444092717   整理番号：20A0407296

Hermansky-Pudlak症候群2型の日本人患者における新規AP3B1遺伝子化合物ヘテロ接合変異

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2

著者 (14件)： Nishikawa Takuro (Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Okamura Ken (Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan) ,  Moriyama Mizuki (Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Watanabe Kenji (Lalala Children’s Clinic, Kagoshima, Japan) ,  Ibusuki Atsuko (Departments of, Department of, Dermatology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Sameshima Seiji (Department of, Ophthalmology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Masamoto Izumi (Department of, Laboratory Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Yamazaki Ieharu (Research Institute, BML Inc., Tokyo, Japan) ,  Yamazaki Ieharu (Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan) ,  Tanita Kay (Departments of, Department of, Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan) ,  Kanekura Takuro (Departments of, Department of, Dermatology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan) ,  Kanegane Hirokazu (Department of, Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan) ,  Suzuki Tamio (Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan) ,  Kawano Yoshifumi (Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan)
資料名： Journal of Dermatology  (Journal of Dermatology)
巻： 47  号： 2  ページ： 185-189  発行年： 2020年02月 
JST資料番号： W1578A  ISSN： 0385-2407  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： オーストラリア (AUS)  言語： 英語 (EN)

抄録/ポイント： Hermansky-Pudlak症候群2型(HPS2)は,部...

シソーラス用語： *遺伝病 ,...
準シソーラス用語： *Hermansky-Pudlak症候群2型 ,...

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著者キーワード (5件)： アダプター関連蛋白質複合体3 ,  Hermansky-Pudlak症候群2型 ,  免疫不全 ,  眼皮膚白皮症 ,  血小板凝集障害

分類 (4件)： 皮膚の診断  (GF02000J) ,  先天性疾患・奇形の診断  (GD03020G) ,  眼の診断  (GP02000N) ,  遺伝的変異  (EC01030Y)

タイトルに関連する用語 (6件)： 症候群 ,  日本人 ,  患者 ,  遺伝子 ,  ヘテロ接合 ,  変異