24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease

Hum Mutat. 1997;10(1):84-5. doi: 10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.0.CO;2-W.
No abstract available

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Child, Preschool
  • Copper / metabolism
  • Copper-Transporting ATPases
  • DNA Mutational Analysis
  • Hepatolenticular Degeneration / genetics*
  • Heterozygote
  • Humans
  • Italy
  • Male
  • Point Mutation / genetics
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA
  • Sequence Deletion*

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • Copper
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases