Beyond Ohdo syndrome: A familial missense mutation broadens the <i>MED12</i> spectrum

• 資料種別: 記事
• タイトル: Beyond Ohdo syndrome: A familial missense mutation broadens the <i>MED12</i> spectrum
• 著者標目: Katherine G. Langley; Jordan Brown; Richard J. Gerber; Janelle Fox; Michael J. Friez; Michael Lyons; Samantha A. Schrier Vergano
• 出版年月日等: 2015-09-04
• 出版年（W3CDTF）: 2015-09-04
• タイトル（掲載誌）: American Journal of Medical Genetics Part A
• 巻号年月日等（掲載誌）: 167 12
• 掲載巻: 167
• 掲載号: 12
• 掲載ページ: 3180-3185
• 掲載年月日（W3CDTF）: 2015-09-04
• ISSN（掲載誌）: 15524825
• 出版事項（掲載誌）: Wiley
• 対象利用者: 一般
• DOI: 10.1002/ajmg.a.37354; https://doi.org/10.1002/ajmg.a.37354
• 作成日（W3CDTF）: 2015-09-04
• 著作権情報: http://onlinelibrary.wiley.com/termsAndConditions#vor
• 関連情報（URI）: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.37354; https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37354
• 参照: MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression; https://cir.nii.ac.jp/crid/1360002217561962880; XLID syndrome gene Med12 promotes Ig isotype switching through chromatin modification and enhancer RNA regulation; https://cir.nii.ac.jp/crid/1360017282227107200
• 連携機関・データベース: 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• 提供元機関・データベース: Crossref; https://www.crossref.org

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