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Investigation into modifying factors in patients with hypertrophic cardiomyopathy caused by an identical disease-causing mutation

Investigation into modifying factors in patients with hypertrophic cardiomyopathy caused by an identical disease-causing mutation
由相同致病突变引起的肥厚型心肌病患者的修饰因素调查
批准号:
20790533
负责人:
KUBO Toru
金额:
$1.58万
依托单位:
依托单位国家:
日本
项目类别:
Grant-in-Aid for Young Scientists (B)
财政年份:
2008
资助国家:
日本
项目状态:
已结题
起止时间:
2008 至 2010

项目摘要

项目成果

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相关文献

中文摘要
翻译
我调查了肥厚型心肌病(HCM)的基因型-表型相关性。在基因分析方面,我报道了一些与HCM相关的突变,特别是心肌肌球蛋白结合蛋白C基因的突变。在HCM临床表型的研究中,我着重于HCM的左心室重构,并报道了一些结果,包括生物标志物对预测预后的有用性。
英文摘要
I investigated the genotype-phenotype correlations in hypertrophic cardiomyopathy (HCM). In genetic analysis, I reported some mutations associated with HCM, particularly mutations in cardiac myosin-binding protein C gene. In the studies of clinical phenotype in HCM, I focused on the left ventricular remodeling of this disease and reported several results including the usefulness of biomarkers for predicting the prognosis.
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会议论文
Clinical profiles of hypertrophic cardiomyopathy with apical phenotype : comparison of pure-apical from and distal-dominant form
具有心尖表型的肥厚型心肌病的临床特征:纯心尖型和远端显性型的比较
DOI: --
发表时间: 2009
期刊:
影响因子: --
作者: [Ikeda S, et al, Kitaoka H, Kitaoka H, 久保亨, Kitaoka H, Kubo T, Kubo T, Okawa M, 久保亨]
通讯作者: 久保亨
Gender differences in the clinical features of hypertrophic cardiomyopathy in an unselected regional Japanese population : Results from Kochi RYOMA study
未经选择的日本地区人群肥厚型心肌病临床特征的性别差异:高知 RYOMA 研究结果
DOI: --
发表时间: 2009
期刊:
影响因子: --
作者: [Washio, I, 久保亨]
通讯作者: 久保亨
A case report : hemolytic anemia in a patient with hypertrophic obstructive cardiomyopathy
病例报告:肥厚型梗阻性心肌病患者溶血性贫血
DOI: --
发表时间: 2009
期刊: Journal of Cardiology (印刷中)
影响因子: --
作者: [KuboT, Kitaoka H, Terauchi Y, et al.]
通讯作者: et al.
DOI: 10.1253/circj.cj-09-1013
发表时间: 2010-06-01
期刊: CIRCULATION JOURNAL
影响因子: 3.3
作者: [Kitaoka, Hiroaki, Kubo, Toru, Doi, Yoshinori L.]
通讯作者: Doi, Yoshinori L.
37
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