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Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.
Miura, Shiroh; Shimojo, Tomofumi; Morikawa, Takuya; Kamada, Takashi; Uchiyama, Yusuke; Kurata, Seiji; Fujioka, Ryuta; Shibata, Hiroki.
Affiliation
  • Miura S; Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, 791-0295, Japan.
  • Shimojo T; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Morikawa T; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Kamada T; Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
  • Uchiyama Y; Department of Neurology, Fukuoka Sanno Hospital, Fukuoka, 814-0001, Japan.
  • Kurata S; Department of Radiology, Kurume University School of Medicine, Kurume, 830-0011, Japan.
  • Fujioka R; Department of Radiology, Kurume University School of Medicine, Kurume, 830-0011, Japan.
  • Shibata H; Department of Food and Nutrition, Beppu University Junior College, Beppu, 874-8501, Japan.
J Hum Genet ; 66(8): 805-811, 2021 Aug.
Article in En | MEDLINE | ID: mdl-33692494
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Dystonia / Nerve Tissue Proteins Limits: Adult / Animals / Female / Humans / Middle aged Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Japan
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Dystonia / Nerve Tissue Proteins Limits: Adult / Animals / Female / Humans / Middle aged Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Japan