Molecular characterization of phenylketonuria in Japanese patients

  title={Molecular characterization of phenylketonuria in Japanese patients},
  author={Yoshiyuki Okano and Minoru Asada and Youngbo Kang and Yasuaki Nishi and Yutaka Hase and Toshiaki Oura and Gen Isshiki},
  journal={Human Genetics},
We characterized phenylalanine hydroxylase (PAH) genotypes of Japanese patients with phenylketonuria (PKU) and hyperphenylalaninemia (HPA). PKU and HPA mutations in 41 Japanese patients were identified by denaturing gradient gel electrophoresis and direct sequencing, followed by restriction fragment length polymorphism analysis to find a large deletion… CONTINUE READING