Two novel mutations involved in hereditary tyrosinemia type I

Hum Mol Genet. 1995 Feb;4(2):319-20. doi: 10.1093/hmg/4.2.319.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Western
  • Canada
  • DNA / analysis
  • Exons
  • Female
  • Humans
  • Hydrolases / deficiency
  • Hydrolases / genetics*
  • Infant, Newborn
  • Liver / chemistry
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Norway
  • Peptides / analysis
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Tyrosine / blood*
  • Tyrosine / genetics*
  • Tyrosine / metabolism

Substances

  • Peptides
  • Tyrosine
  • DNA
  • Hydrolases
  • fumarylacetoacetase