Zekanowsk C, Perez B, Desviat L R, Wiszniewski W, Ugarte M
Department of Medical Genetics, National Research Institute of Mother and Child, Warszawa, Poland.
Acta Biochim Pol. 2000;47(2):365-9.
Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
苯丙酮尿症（PKU）是一种由肝脏苯丙氨酸羟化酶（PAH）缺乏引起的常染色体隐性疾病，临床表现具有高度异质性。在分子水平上，迄今为止已知PAH基因有400多种突变，不同的基因型组合可能导致症状的生化和临床变异性。本文展示了对导致轻度苯丙酮尿症的R68G和R68S突变的体外表达研究。
