British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene

Br J Ophthalmol. 2007 Dec;91(12):1717-8. doi: 10.1136/bjo.2007.115154.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Aged
  • Amino Acid Substitution
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1 / genetics
  • Collagen Type VIII / genetics*
  • Female
  • Fuchs' Endothelial Dystrophy / genetics*
  • Humans
  • Leucine
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Tryptophan

Substances

  • COL8A2 protein, human
  • Collagen Type VIII
  • Tryptophan
  • Leucine