西班牙苯丙酮尿症的突变分析：两种地中海突变的患病率
Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.
作者信息
Pérez B, Desviat L R, Die M, Ugarte M
机构信息
Centro de Biología Molecular, Universidad Autónoma de Madrid, Spain.
出版信息
Hum Genet. 1992 May;89(3):341-2. doi: 10.1007/BF00220555.
PMID:1601425
Abstract
We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean countries, such as Italy. This is the first report of a mutation analysis in the Spanish PKU population.
摘要
我们对七个西班牙苯丙酮尿症（PKU）家庭进行了筛查，以寻找最常见的地中海和高加索人群突变，随后发现了P281L和IVS10突变。我们对23名患者的这两种突变进行了分析。所发现的频率与意大利等地中海国家的频率相符。这是关于西班牙PKU人群突变分析的首次报告。
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