Kir2.1に新規ミスセンス変異（L94P）を認める常染色体劣性遺伝形式のAndersen-Tawil症候群

Name of awarding university/degree: 広島大学,博士(医学),Philosophy in Medical Science

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Hiroshima University Institutional Repository
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Material Type: 博士論文
Title: Kir2.1に新規ミスセンス変異（L94P）を認める常染色体劣性遺伝形式のAndersen-Tawil症候群
Author/Editor: 竹田, 育子
Author Heading: 竹田, 育子
Alternative Title: Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1
Degree grantor/type: 広島大学
Date Granted: 2014-01-23
Dissertation Number: 甲第6277号
Degree Type: 博士(医学)
Philosophy in Medical Science
Text Language Code: eng
Subject Heading: Andersen-Tawil syndrome
KCNJ2
Kir2.1
autosomal recessive
patch clamp
Target Audience: 一般
Format (IMT): application/pdf
Access Restrictions: インターネット公開
Rights (production): Copyright(c) by Author
References: Ikuko Takeda, Tetsuya Takahashi, Hiroki Ueno, Hiroyuki Morino, Kazuhide Ochi, Takeshi Nakamura, Naohisa Hosomi, Hideshi Kawakami, Kouichi Hashimoto and Masayasu Matsumoto; Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1; Neurology and Clinical Neuroscience, Volume 1, Issue 4, pages 131-137, July 2013 (doi: 10.1111/ncn3.38)
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): 広島大学 : 広島大学学術情報リポジトリ