Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene

Hum Mutat. 2000 Sep;16(3):278.
No abstract available

MeSH terms

  • Adult
  • Codon, Nonsense / genetics*
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Mutagenesis, Insertional / genetics*
  • RNA Splice Sites / genetics*
  • Serine / genetics

Substances

  • Codon, Nonsense
  • RNA Splice Sites
  • Serine