A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene

J Genet. 2006 Apr;85(1):73-6. doi: 10.1007/BF02728974.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China
  • Corneal Dystrophies, Hereditary / genetics*
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Proline / genetics*
  • Threonine / genetics*
  • Transforming Growth Factor beta / genetics*
  • Transforming Growth Factor beta1

Substances

  • TGFB1 protein, human
  • Transforming Growth Factor beta
  • Transforming Growth Factor beta1
  • Threonine
  • Proline