Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria

J Med Genet. 2000 Jul;37(7):539-42. doi: 10.1136/jmg.37.7.539.
No abstract available

Publication types

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

MeSH terms

  • Alkaptonuria / genetics*
  • Amino Acid Sequence
  • DNA Mutational Analysis
  • Dioxygenases*
  • Founder Effect
  • Genetic Testing*
  • Homogentisate 1,2-Dioxygenase
  • Humans
  • Molecular Sequence Data
  • Oxygenases / genetics*
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Sequence Alignment
  • Slovakia

Substances

  • Oxygenases
  • Dioxygenases
  • Homogentisate 1,2-Dioxygenase

Associated data

  • GENBANK/AF000573
  • GENBANK/AF045167
  • GENBANK/U30797
  • GENBANK/U58988