文献

J-GLOBAL ID：201002248516931471   整理番号：10A0876173

肥大型心筋症の拡張期と拡張型心筋症に関連する心臓ミオシン結合蛋白質Cのフレームシフト欠失変異

A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy

著者 (10件)： HITOMI Nobuhiko (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) ,  HIROTA Takayoshi (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) ,  HOSHIKAWA Eri (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) ,  KIMURA Akinori (Medical Res. Inst., Tokyo Medical and Dental Univ., Tokyo, 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： 2  ページ： 189-196  発行年： 2010年09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： 目的:心臓ミオシン結合蛋白質C(MyBPC)遺伝子の数種の変...

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 (2件)： 循環系の臨床医学一般  (GJ01030V) ,  遺伝的変異  (EC01030Y)

引用文献 (38件)：

• SPIRITO, P. The management of hypertrophic cardiomyopathy. N Engl J Med. 1997, 336, 775-785
• MARON, BJ. 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
• JARCHO, JA. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989, 321, 1372-1378

タイトルに関連する用語 (7件)： 肥大型心筋症 ,  拡張期 ,  拡張型心筋症 ,  心臓 ,  ミオシン結合蛋白質C ,  シフト ,  欠失変異