A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2

Nephrol Dial Transplant. 2007 Aug;22(8):2371-4. doi: 10.1093/ndt/gfm271. Epub 2007 May 17.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Alcohol Oxidoreductases / genetics*
  • Alcohol Oxidoreductases / physiology*
  • Base Sequence
  • Gene Expression Regulation*
  • Genetic Vectors
  • Genotype
  • Humans
  • Hyperoxaluria, Primary / genetics*
  • Japan
  • Male
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Mutation*
  • Mutation, Missense
  • Phenotype

Substances

  • Alcohol Oxidoreductases
  • glyoxylate reductase