A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

J Med Genet. 2003 Sep;40(9):709-13. doi: 10.1136/jmg.40.9.709.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Carrier Proteins
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Eye Proteins
  • Family Health
  • Female
  • Founder Effect*
  • Genetic Variation
  • Heterozygote
  • Histidine / genetics
  • Homozygote
  • Humans
  • Male
  • Mutation
  • Netherlands
  • Pedigree
  • Proteins / genetics*
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Tyrosine / genetics
  • cis-trans-Isomerases

Substances

  • Carrier Proteins
  • Eye Proteins
  • Proteins
  • Tyrosine
  • Histidine
  • DNA
  • retinoid isomerohydrolase
  • cis-trans-Isomerases