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J-GLOBAL ID：201902264844611368   Reference number：19A1423476

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability

PMP22関連疾患:新規スプライス部位受容体変異体と家族内表現型変異性【JST・京大機械翻訳】

Author (14)： Kawarai Toshitaka (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Yamazaki Hiroki (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Miyamoto Ryosuke (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Takamatsu Naoko (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Mori Atsuko (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Osaki Yusuke (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Orlacchio Antonio (Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy) ,  Orlacchio Antonio (Dipartimento di Scienze Chirurgiche e Biomediche, Universita di Perugia, Perugia, Italy) ,  Nodera Hiroyuki (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan) ,  Hashiguchi Akihiro (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Higuchi Yujiro (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Yoshimura Akiko (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Takashima Hiroshi (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Kaji Ryuji (Department of Clinical Neuroscience, Tokushima University Graduate School, Tokushima, Japan)
Material： Neuromuscular Disorders  (Neuromuscul Disord)
Volume： 29  Issue： 6  Page： 422-426  Publication year： 2019 
JST Material Number： W1760A  ISSN： 0960-8966  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： PMP22 is the most frequent mut...

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Thesaurus term： *phenotype ,  adult(person) ,  mRNA ,  dysfunction ,  *variation(biology) ,  gene ,  *receptor ,  protein ,  missense mutation ,  deletion mutation ,  pathophysiology ,  mutation
Semi thesaurus term： 多発性神経障害 ,  発症 ,  *スプライス部位 , 【Automatic Indexing@JST】

Author keywords (5)： PMP22-related disease ,  Splice site acceptor variant ,  Gene dose effect ,  PMP22 protein with in-frame deletion ,  Overlapped pathophysiology

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O)

Terms in the title (7)： PMP22 ,  疾患 ,  スプライス部位 ,  受容体 ,  変異体 ,  家族 ,  表現型変異