A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease

Eur Neurol. 2004;51(1):52-4. doi: 10.1159/000075092. Epub 2003 Nov 21.
No abstract available

Publication types

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

MeSH terms

  • Adenine Nucleotides / genetics
  • Adult
  • Copper / metabolism
  • DNA Mutational Analysis*
  • Exons
  • Guanine Nucleotides / genetics
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / physiopathology
  • Homozygote
  • Humans
  • Male
  • Mutation, Missense*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

  • Adenine Nucleotides
  • Guanine Nucleotides
  • Copper