Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene

Eur J Pediatr. 2002 Feb;161(2):124-6. doi: 10.1007/s00431-001-0865-9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases* / genetics*
  • Adolescent
  • Base Sequence
  • DNA Mutational Analysis
  • Genetic Testing / methods
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction / methods
  • Prognosis
  • Severity of Illness Index
  • Time Factors

Substances

  • Adenosine Triphosphatases