SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

• 資料種別: 記事
• タイトル: SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
• 著者標目: Gregor D. Gilfillan; Kaja K. Selmer; Ingrid Roxrud; Raffaella Smith; Mårten Kyllerman; Kristin Eiklid; Mette Kroken; Morten Mattingsdal; Thore Egeland; Harald Stenmark; Hans Sjøholm; Andres Server; Lena Samuelsson; Arnold Christianson; Patrick Tarpey; Annabel Whibley; Michael R. Stratton; P. Andrew Futreal; Jon Teague; Sarah Edkins; Jozef Gecz; Gillian Turner; F. Lucy Raymond; Charles Schwartz; Roger E. Stevenson; Dag E. Undlien; Petter Strømme
• 出版年月日等: 2008-04
• 出版年（W3CDTF）: 2008-04
• タイトル（掲載誌）: The American Journal of Human Genetics
• 巻号年月日等（掲載誌）: 82 4
• 掲載巻: 82
• 掲載号: 4
• 掲載ページ: 1003-1010
• 掲載年月日（W3CDTF）: 2008-04
• ISSN（掲載誌）: 00029297
• 出版事項（掲載誌）: Elsevier BV
• 対象利用者: 一般
• DOI: 10.1016/j.ajhg.2008.01.013
• 作成日（W3CDTF）: 2008-03-24
• 著作権情報: https://www.elsevier.com/tdm/userlicense/1.0/; https://www.elsevier.com/open-access/userlicense/1.0/
• 関連情報（URI）: https://api.elsevier.com/content/article/PII:S0002929708001626?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S0002929708001626?httpAccept=text/plain
• 参照: A loss‐of‐function mutation in the <i>SLC9A6</i> gene causes X‐linked mental retardation resembling Angelman syndrome; https://cir.nii.ac.jp/crid/1360285704870270464; A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome; https://cir.nii.ac.jp/crid/1360286993324156800; Novel <i>SLC9A6</i> Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism; https://cir.nii.ac.jp/crid/1360298757189217280; PhotonSABER: new tool shedding light on endocytosis and learning mechanisms <i>in vivo</i>; https://cir.nii.ac.jp/crid/1360567184256130944; Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature; https://cir.nii.ac.jp/crid/1361131416707591936
• 連携機関・データベース: 国立情報学研究所 : CiNii Research
• 提供元機関・データベース: Crossref; https://www.crossref.org