Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria

Hum Genet. 2010 Apr;127(4):468.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Exons
  • Humans
  • Hyperoxaluria / enzymology
  • Hyperoxaluria / genetics
  • Hyperoxaluria, Primary
  • Italy
  • Male
  • Sequence Deletion
  • Transaminases / deficiency
  • Transaminases / genetics*

Substances

  • Transaminases
  • Alanine-glyoxylate transaminase

Supplementary concepts

  • Primary hyperoxaluria type 1