Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

Br J Dermatol. 2009 Mar;160(3):704-6. doi: 10.1111/j.1365-2133.2008.08888.x. Epub 2008 Oct 13.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis / methods
  • Eye Diseases, Hereditary / genetics
  • Female
  • Humans
  • Keratoderma, Palmoplantar / genetics
  • Mutation*
  • Pedigree
  • Skin Diseases, Genetic / genetics*
  • Tyrosine Transaminase / genetics*
  • Tyrosinemias / genetics*

Substances

  • Tyrosine Transaminase