A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV

Hum Mutat. 1998:Suppl 1:S257-9. doi: 10.1002/humu.1380110182.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Arginine
  • Collagen / genetics*
  • Collagen / metabolism
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Ehlers-Danlos Syndrome / genetics*
  • Ehlers-Danlos Syndrome / pathology
  • Glycine
  • Humans
  • Male
  • Mutation
  • Point Mutation
  • RNA, Messenger / genetics

Substances

  • DNA, Complementary
  • RNA, Messenger
  • Collagen
  • Arginine
  • Glycine