Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

@article{Ikeda1997MolecularAO,
  title={Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients},
  author={Hiroyuki Ikeda and Yoichi Matsubara and Hitoshi Mikami and Shigeo Kure and Misao Owada and Tamara J. Gough and Peter M Smooker and Marion Dobbs and H. H. M. Dahl and Richard G. H. Cotton and Kuniaki Narisawa},
  journal={Human Genetics},
  year={1997},
  volume={100},
  pages={637-642}
}
Mutations in the dihydropteridine reductase (DHPR) gene result in hyperphenylalaninaemia and deficiency of various neurotransmitters in the central nervous system, causing severe neurological symptoms. We studied two Japanese patients with DHPR deficiency and identified a missense and a splicing error mutation, respectively. A homozygous missense mutation (tryptophan36-to-arginine) was detected in patient 1. The mutation abolished DHPR activity according to in vitro expression studies. The DHPR… CONTINUE READING
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Molecular basis of dihydro - pteridine reductase deficiency

  • PM Smooker, Cotton RGH
  • Hum Mutat
  • 1995

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