Art

J-GLOBAL ID：201802284834287101   Reference number：18A1247833

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease

KMT2B関連疾患における表現型多様性と対立遺伝子不均一性【JST・京大機械翻訳】

Author (26)： Kawarai Toshitaka (Department of Clinical Neuroscience, Tokushima University, Tokushima, Japan) ,  Miyamoto Ryosuke (Department of Clinical Neuroscience, Tokushima University, Tokushima, Japan) ,  Nakagawa Eiji (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan) ,  Koichihara Reiko (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan) ,  Sakamoto Takashi (Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan) ,  Mure Hideo (Department of Neurosurgery, Tokushima University, Tokushima, Japan) ,  Morigaki Ryoma (Department of Neurosurgery, Tokushima University, Tokushima, Japan) ,  Morigaki Ryoma (Department of Neurodegenerative Disorders Research, And Parkinson’s Disease and Dystonia Research Center, Tokushima University, Tokushima, Japan) ,  Koizumi Hidetaka (Department of Clinical Neuroscience, Tokushima University, Tokushima, Japan) ,  Oki Ryosuke (Department of Clinical Neuroscience, Tokushima University, Tokushima, Japan) ,  Montecchiani Celeste (Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy) ,  Montecchiani Celeste (Dipartimento di Scienze Chirurgiche e Biomediche, Universita di Perugia, Perugia, Italy) ,  Caltagirone Carlo (Laboratorio di Neurologia Clinica e Comportamentale, IRCCS Santa Lucia, Rome, Italy) ,  Caltagirone Carlo (Dipartimento di Medicina dei Sistemi, Universita di Roma “Tor Vergata”, Rome, Italy) ,  Orlacchio Antonio (Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy) ,  Orlacchio Antonio (Dipartimento di Scienze Chirurgiche e Biomediche, Universita di Perugia, Perugia, Italy) ,  Hattori Ayako (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Mashimo Hideaki (Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu City, Tokyo, Japan) ,  Izumi Yuishin (Department of Clinical Neuroscience, Tokushima University, Tokushima, Japan) ,  Mezaki Takahiro (Department of Neurology, Sakakibara Hakuho Hospital, 5630 Sakakibara-cho, Tsu City, Mie, Japan) ,  Kumada Satoko (Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu City, Tokyo, Japan) ,  Taniguchi Makoto (Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Fuchu City, Tokyo, Japan) ,  Yokochi Fusako (Department of Neurology, Tokyo Metropolitan Neurological Hospital, Fuchu City, Tokyo, Japan) ,  Saitoh Shinji (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Goto Satoshi (Department of Neurodegenerative Disorders Research, And Parkinson’s Disease and Dystonia Research Center, Tokushima University, Tokushima, Japan) ,  Kaji Ryuji (Department of Clinical Neuroscience, Tokushima University, Tokushima, Japan)
Material： Parkinsonism and Related Disorders
Volume： 52  Page： 55-61  Publication year： 2018 
JST Material Number： W3182A  ISSN： 1353-8020  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Mutations in Lysine-Specific H...

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Thesaurus term： dystonia ,  reproductive cell ,  Cerebellum ,  *allele ,  *Heredity ,  *gene ,  father ,  Myoclonus ,  patient ,  mRNA ,  Mutation ,  *Phenotype ,  Japanese ,  Genetic Variation ,  Brain
Semi thesaurus term： variation(biology) ,  発症 , 【Automatic Indexing@JST】

Author keywords (5)： Dystonia ,  Myoclonus ,  KMT2B ,  Short stature ,  Microcephaly

JST classification (2)： Molecular genetics in general  (EC02010J) ,  Genetic variation  (EC01030Y)

Terms in the title (4)： 疾患 ,  表現型多様性 ,  対立遺伝子 ,  不均一性