Art

J-GLOBAL ID：201002248516931471   Reference number：10A0876173

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

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

Author (10)： 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)
Material： Journal of Cardiology  (J Cardiol)
Volume： 56  Issue： 2  Page： 189-196  Publication year： Sep. 2010 
JST Material Number： W2218A  ISSN： 0914-5087  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *hypertrophic cardiomyopathy ,...
Semi thesaurus term： *D-HCM ,...

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JST classification (2)： Clinical medicine on cardiovascular system in general  (GJ01030V) ,  Genetic variation  (EC01030Y)

Reference (38)：

• 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

Terms in the title (7)： 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