A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis

Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU23>3.0.CO;2-R.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Codon, Nonsense / genetics
  • Eye Proteins / genetics*
  • Genetic Linkage / genetics*
  • Humans
  • Lysine / genetics*
  • Mutation / genetics*
  • Retinal Degeneration / genetics*
  • Taiwan
  • X Chromosome / genetics*

Substances

  • Codon, Nonsense
  • Eye Proteins
  • RS1 protein, human
  • Lysine