文献

J-GLOBAL ID：201002250899298208   整理番号：10A0677696

肥大型心筋症における新規な心臓ミオシン結合蛋白質CのS297X変異

A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy

著者 (11件)： HIROTA Takayoshi (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  KUBO Toru (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  KITAOKA Hiroaki (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  HAMADA Tomoyuki (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  BABA Yuichi (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  HAYATO Kayo (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  OKAWA Makoto (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  YAMASAKI Naohito (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  MATSUMURA Yoshihisa (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  YABE Toshikazu (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN) ,  DOI Yoshinori L. (Dep. of Medicine and Geriatrics, Kochi Medical School, Oko-cho, Nankoku-shi, Kochi 783-8505, JPN)
資料名： Journal of Cardiology  (Journal of Cardiology)
巻： 56  号： 1  ページ： 59-65  発行年： 2010年07月 
JST資料番号： W2218A  ISSN： 0914-5087  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 背景:心臓ミオシン結合蛋白質C遺伝子(MYBPC3)の変異は...

シソーラス用語： *肥大型心筋症 ,...
準シソーラス用語： *ミオシン結合蛋白質C ,...

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分類 (1件)： 循環系の疾患  (GJ03000C)

引用文献 (25件)：

• SPIRITO, P. The management of hypertrophic cardiomyopathy. N Engl J Med. 1997, 336, 775-785
• MARON, BJ. Task force on Clinical Expert Consensus Documents. American College of Cardiology ; Committee for Practice Guidelines. European Society of Cardiology. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol. 2003, 42, 1687-1713
• MARON, BJ. Hypertrophic cardiomyopathy : a systematic review. JAMA. 2002, 287, 1308-1320
• ELLIOTT, P. Hypertrophic cardiomyopathy. Lancet. 2004, 363, 1881-1891
• BONNE, G. Familial hypertrophic cardiomyopathy : from mutations to functional defects. Circ Res. 1998, 83, 580-593

タイトルに関連する用語 (4件)： 肥大型心筋症 ,  心臓 ,  ミオシン結合蛋白質C ,  変異