Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease

Hum Mutat. 2001 Feb;17(2):156. doi: 10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO;2-0.
No abstract available

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Codon, Nonsense
  • Copper-Transporting ATPases
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Mutation
  • Mutation, Missense

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • Codon, Nonsense
  • DNA
  • Adenosine Triphosphatases
  • Copper-Transporting ATPases