A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

Hum Mol Genet. 1995 Dec;4(12):2415-6. doi: 10.1093/hmg/4.12.2415.
No abstract available

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cysteine / genetics
  • DNA
  • Female
  • Humans
  • Macular Degeneration / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Proteins / genetics*
  • Serine / genetics
  • Tissue Inhibitor of Metalloproteinase-3

Substances

  • Proteins
  • Tissue Inhibitor of Metalloproteinase-3
  • Serine
  • DNA
  • Cysteine