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An approach to the diagnosis of sudden cardiac death : Investigation of a detection method for mutations in genes associated with inherited lethal cardiac arrhythmias

An approach to the diagnosis of sudden cardiac death : Investigation of a detection method for mutations in genes associated with inherited lethal cardiac arrhythmias
心源性猝死的诊断方法:遗传性致死性心律失常相关基因突变检测方法的研究
批准号:
22790605
负责人:
MATSUSUE Aya
金额:
$2.58万
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:
2010
资助国家:
日本
项目状态:
已结题
起止时间:
2010 至 2011

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中文摘要
翻译
在疑似心源性猝死的法医尸检案例中,尸检结果和病理检查显示没有致命疾病的迹象,我们搜索与遗传性致命性心律失常相关的基因突变。发现了一个突变,提示该突变与心源性猝死有关。在疑似致心律失常性右室心肌病(ARVC)的法医尸检病例中,我们搜索了与ARVC相关的基因突变,并发现了一些突变。在法医尸检案例中,基因分析有助于心源性猝死的科学诊断。
英文摘要
In forensic autopsy cases suspected of sudden cardiac death, where autopsy findings and pathological examination revealed no signs of fatal disease, we searched for mutations in genes associated with inherited lethal cardiac arrhythmias. One mutation was found and it was suggested that this mutation was associated with sudden cardiac death. In forensic autopsy cases suspected of arrhythmogenic right ventricular cardiomyopathy(ARVC), we searched for mutations in genes associated with ARVC and some mutations were found. Genetic analysis is scientifically helpful in the diagnosis of sudden cardiac death in forensic autopsy cases.
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会议论文
臓突然死剖検例におけるSCN5A遺伝子の変異探索
内脏性猝死尸检病例中寻找SCN5A基因突变
DOI: --
发表时间: 2011
期刊:
影响因子: --
作者: [Ro A, Kageyama N, Takatsu A, Fukunaga T, 松末綾]
通讯作者: 松末綾
DOI: 10.1016/j.legalmed.2012.04.009
发表时间: 2012-11-01
期刊: LEGAL MEDICINE
影响因子: 1.5
作者: [Matsusue, Aya, Kashiwagi, Masayuki, Kubo, Shin-ichi]
通讯作者: Kubo, Shin-ichi
心臓突然死剖検例におけるSCN5A遺伝子の変異探索
寻找心源性猝死尸检病例中 SCN5A 基因的突变
DOI: --
发表时间: 2011
期刊:
影响因子: --
作者: [Sato T, Nishio H, Suzuki K, 松末綾]
通讯作者: 松末綾
Genetic background of sudden unexpected infant deaths
  • 批准号:
    15K08892
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
  • 资助金额:
    $2.83万
  • 财政年份:
    2015
  • 负责人:
    MATSUSUE Aya
  • 依托单位:
Identification of genetic markers for rhabdomyolysis indused by drug and the establishment of gene diagnosis
  • 批准号:
    20790468
  • 项目类别:
    Grant-in-Aid for Young Scientists (B)
  • 资助金额:
    $2.83万
  • 财政年份:
    2008
  • 负责人:
    MATSUSUE Aya
  • 依托单位:
海外基金