Molecular clues to Bothnia-type retinal dystrophy

Adv Exp Med Biol. 2012:723:589-94. doi: 10.1007/978-1-4614-0631-0_75.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcohol Oxidoreductases / metabolism
  • Carrier Proteins* / chemistry
  • Carrier Proteins* / genetics
  • Carrier Proteins* / metabolism
  • Crystallography, X-Ray
  • Humans
  • Oxidation-Reduction
  • Point Mutation / physiology*
  • Protein Structure, Secondary
  • Protein Structure, Tertiary
  • Retinal Dystrophies / classification
  • Retinal Dystrophies / genetics
  • Retinal Dystrophies / metabolism*
  • Retinal Pigment Epithelium / metabolism*
  • Retinaldehyde / metabolism
  • Vision, Ocular / physiology*

Substances

  • 11-cis-retinal-binding protein
  • Carrier Proteins
  • Alcohol Oxidoreductases
  • retinol dehydrogenase 5
  • Retinaldehyde