Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

• Material Type: 博士論文
• Title: Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism
• Author/Editor: 佐藤, 智生
• Author Heading: 佐藤, 智生
• Publication, Distribution, etc.: 日本人類遺伝学会
• Publication Date: 2018-09-20
• Publication Date (W3CDTF): 2018-09-20
• Alternative Title: 生殖細胞系列モザイクによりKAT6A遺伝子にナンセンス変異をみとめた３兄弟
• Periodical title: Human Genome Variation
• No. or year of volume/issue: 4
• Volume: 4
• Pages: 17045-
• ISSN (Periodical Title): ISSN : 2054345X
• Degree grantor/type: Nagasaki University (長崎大学)
• Date Granted: 2018-09-20
• Dissertation Number: 甲医歯薬第1097号
• Degree Type: 博士(医学)
• Text Language Code: eng
• Target Audience: 一般
• Note (General): 長崎大学学位論文 学位記番号:博(医歯薬)甲第1097号 学位授与年月日:平成30年9月20日; Author: Chisei Satoh, Ryuta Maekawa, Akira Kinoshita, Hiroyuki Mishima, Michiko Doi, Mutsuko Miyazaki, Masafumi Fukuda, Haruo Takahashi, Tatsuro Kondoh and Koh-ichiro Yoshiura; Citation: Human Genome Variation, 4, 17045; 2017; Nagasaki University (長崎大学), 博士(医学) (2018-09-20)
• Format (IMT): application/pdf
• Source: ISYK1097_Satoh.pdf （fulltext）; https://nagasaki-u.repo.nii.ac.jp/record/1322/files/ISYK1097_Satoh.pdf
• Access Restrictions: インターネット公開
• Rights (production): c The Author(s) 2017 This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
• Related Material (DOI): 10.1038/hgv.2017.45
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 長崎大学 : 長崎大学学術研究成果リポジトリ

• Summary, etc.: Mutations in KAT6A, encoding a member of the MYST family of histone acetyl-transferases, were recently reported in patients with a neurodevelopmental ...