Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination

Hum Mutat. 1998:Suppl 1:S317-9. doi: 10.1002/humu.1380110199.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Arrestin / genetics*
  • Base Sequence
  • Codon, Terminator / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Homozygote
  • Humans
  • India
  • Male
  • Mutation
  • Night Blindness / congenital
  • Night Blindness / genetics*
  • Nuclear Family
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational

Substances

  • Arrestin
  • Codon, Terminator
  • DNA