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Molecular epidemiolojial study on maple syrup urine disease in Philippine.

Molecular epidemiolojial study on maple syrup urine disease in Philippine.
菲律宾枫糖浆尿病的分子流行病学研究。
批准号:
16406031
负责人:
MATSUO Masafumi
金额:
$8.51万
依托单位:
依托单位国家:
日本
项目类别:
Grant-in-Aid for Scientific Research (B)
财政年份:
2004
资助国家:
日本
项目状态:
已结题
起止时间:
2004 至 2006

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项目成果

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中文摘要
翻译
在菲律宾,枫糖浆尿病(MSUD)经常被发现,并且被认为是新生儿死亡的最重要原因之一。本研究在大马尼拉通过新生儿筛查对MSUD进行了部分鉴定,发现一种独特的缺失突变是常见突变之一,携带者的发病率估计为1/100。为简化突变检测,建立了一次分析4个基因的DHPLC系统。通过使用该系统,鉴定了另一种新的和常见的突变。
英文摘要
In the Phillipines maple syrup urine disease(MSUD) is frequently identified and is supposed to be one of the most important cause of neonatal death. In this study identification of MSUD has been conducted in the metro Manila partly by neonatal screening.A unique deletion mutation was found to be one of the common mutation and incidence of the carrier was estimated one in every 100 people. To fascilitate mutation detection DHPLC system that analyze 4 genes at one time was established. By using this system another novel and common mutation was identified.
期刊论文(1)
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会议论文
DOI: 10.1016/j.ymgme.2003.10.006
发表时间: 2004-02-01
期刊: MOLECULAR GENETICS AND METABOLISM
影响因子: 3.8
作者: [Silao, CLT, Padilla, CD, Matsuo, M]
通讯作者: Matsuo, M
Cloning of non-dystrophin transcript from the dystrophin gene
  • 批准号:
    25670480
  • 项目类别:
    Grant-in-Aid for Challenging Exploratory Research
  • 资助金额:
    $2.5万
  • 财政年份:
    2013
  • 负责人:
    MATSUO Masafumi
  • 依托单位:
Expression of dystrophin via exon skipping with a small chemical
  • 批准号:
    24390267
  • 项目类别:
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  • 资助金额:
    $11.65万
  • 财政年份:
    2012
  • 负责人:
    MATSUO Masafumi
  • 依托单位:
Dose prostaglandin-mediated inflammation commit to pathology of Duchenne muscular dystrophy?
  • 批准号:
    23659521
  • 项目类别:
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  • 资助金额:
    $2.5万
  • 财政年份:
    2011
  • 负责人:
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  • 依托单位:
Genes responsible for mental retardation complicating to Duchenne muscular dystrophy
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