Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

Hum Mutat. 1995;5(2):179-81. doi: 10.1002/humu.1380050213.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Codon
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Glycine*
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Procollagen / classification
  • Procollagen / genetics*
  • Valine*

Substances

  • Codon
  • DNA, Complementary
  • Procollagen
  • Valine
  • Glycine