Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1

Nephrology (Carlton). 2016 Jan;21(1):75-6. doi: 10.1111/nep.12572.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Consanguinity
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Humans
  • Hyperoxaluria, Primary / diagnosis
  • Hyperoxaluria, Primary / enzymology
  • Hyperoxaluria, Primary / genetics*
  • Hyperoxaluria, Primary / surgery
  • Kidney Failure, Chronic / genetics
  • Kidney Failure, Chronic / surgery
  • Kidney Transplantation
  • Liver Transplantation
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Sri Lanka
  • Transaminases / genetics*

Substances

  • Transaminases
  • Alanine-glyoxylate transaminase

Supplementary concepts

  • Primary hyperoxaluria type 1