希腊苯丙酮尿症（PKU）和高苯丙氨酸血症（HPA）患者苯丙氨酸羟化酶基因的初步突变分析。
Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.
作者信息
Traeger-Synodinos J, Kanavakis E, Kalogerakou M, Soulpi K, Missiou-Tsangaraki S, Kattamis C
机构信息
First Department of Pediatrics, Athens University, Greece.
出版信息
Hum Genet. 1994 Nov;94(5):573-5. doi: 10.1007/BF00211031.
PMID:7959699
Abstract
The presence of nine mutations in the phenylalanine hydroxylase (PAH) gene, previously described in phenylketonuria (PKU) patients of other Mediterranean and European populations, was assessed in 47 Greek PKU and 3 hyperphenylalaninaemia (HPA) patients. Of the nine mutations investigated, only five were detected, characterizing 31% of the PKU alleles in our patients.
摘要
在47名希腊苯丙酮尿症（PKU）患者和3名高苯丙氨酸血症（HPA）患者中，评估了先前在其他地中海和欧洲人群的PKU患者中描述的苯丙氨酸羟化酶（PAH）基因中的9种突变。在所研究的9种突变中，仅检测到5种，其在我们患者的PKU等位基因中占31%。
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