Identification of three novel insertion/deletion mutations in Wilson disease's gene

Biochem Genet. 2004 Oct;42(9-10):377-84. doi: 10.1023/b:bigi.0000039811.08566.c9.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adolescent
  • Adult
  • Cation Transport Proteins / genetics*
  • Child
  • Copper / metabolism
  • Copper-Transporting ATPases
  • DNA Mutational Analysis
  • Female
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / metabolism
  • Hepatolenticular Degeneration / pathology
  • Humans
  • Male
  • Mutagenesis, Insertional / genetics*
  • Sequence Deletion / genetics*

Substances

  • Cation Transport Proteins
  • Copper
  • Adenosine Triphosphatases
  • Copper-Transporting ATPases