Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease

Neurology. 1996 May;46(5):1485-6. doi: 10.1212/wnl.46.5.1485.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ceruloplasmin / analysis
  • Copper / blood
  • Copper / urine
  • Diagnostic Errors*
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage*
  • Haplotypes
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Male
  • Pedigree
  • Polymerase Chain Reaction

Substances

  • Copper
  • Ceruloplasmin