Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

  • Yoko Nakajima
  • , Judith Meijer
  • , Doreen Dobritzsch
  • , Tetsuya Ito
  • , Rutger Meinsma
  • , Nico G.G.M. Abeling
  • , Jeroen Roelofsen
  • , Lida Zoetekouw
  • , Yoriko Watanabe
  • , Kyoko Tashiro
  • , Tomoko Lee
  • , Yasuhiro Takeshima
  • , Hiroshi Mitsubuchi
  • , Akira Yoneyama
  • , Kazuhide Ohta
  • , Kaoru Eto
  • , Kayoko Saito
  • , Tomiko Kuhara
  • , André B.P. van Kuilenburg

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology