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J-GLOBAL ID：202002292583033874   Reference number：20A1531897

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism

一過性新生児副甲状腺機能亢進症のスペクトルにおける新規TRPV6変異

Author (15)： Suzuki Yoshiro (Department of Physiology, Iwate Medical University, Iwate, Japan) ,  Suzuki Yoshiro (Division of Cell Signaling, National Institute for Physiological Sciences (Exploratory Research Center on Life and Living Systems), National Institutes of Natural Sciences, Okazaki, Japan) ,  Suzuki Yoshiro (Department of Physiological Sciences, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Japan) ,  Sawada Hirotake (Department of Fundamental Nursing, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan) ,  Tokumasu Tomoko (Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan) ,  Suzuki Shigeru (Department of Pediatrics, Asahikawa-Kosei General Hospital, Asahikawa, Japan) ,  Suzuki Shigeru (Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan) ,  Ninomiya Shinsuke (Department of Clinical Genetics, Kurashiki Central Hospital, Kurashiki, Japan) ,  Shirai Masaru (Department of Pediatrics, Asahikawa-Kosei General Hospital, Asahikawa, Japan) ,  Mukai Tokuo (Department of Pediatrics, Asahikawa-Kosei General Hospital, Asahikawa, Japan) ,  Mukai Tokuo (Department of Pediatrics, Japanese Red Cross Asahikawa Hospital, Asahikawa, Japan) ,  Saito Claire T. (Division of Cell Signaling, National Institute for Physiological Sciences (Exploratory Research Center on Life and Living Systems), National Institutes of Natural Sciences, Okazaki, Japan) ,  Nishimura Gen (Center for Intractable Disease, Saitama Medical University Hospital, Saitama, Japan) ,  Tominaga Makoto (Division of Cell Signaling, National Institute for Physiological Sciences (Exploratory Research Center on Life and Living Systems), National Institutes of Natural Sciences, Okazaki, Japan) ,  Tominaga Makoto (Department of Physiological Sciences, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Japan)
Material： Journal of Physiological Sciences (Web)
Volume： 70  Issue： 1  Page： 33  Publication year： 2020 
JST Material Number： U1505A  ISSN： 1880-6546  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *variation(biology) ,...

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Author keywords (5)： Transient receptor potential channel (TRP channel) ,  Maternal-fetal calcium transport ,  Transient neonatal hyperparathyroidism (TNHP) ,  Patch-clamp recording ,  Membrane trafficking

JST classification (2)： Endocrine diseases  (GL03000I) ,  Genetic variation  (EC01030Y)

Terms in the title (5)： 新生児 ,  副甲状腺機能亢進症 ,  スペクトル ,  TRPV6 ,  変異