A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV

Hum Mutat. 1996;7(1):59-60. doi: 10.1002/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K.
No abstract available

Publication types

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

MeSH terms

  • Cells, Cultured
  • Collagen / genetics*
  • Ehlers-Danlos Syndrome / genetics*
  • Exons
  • Fibroblasts / ultrastructure
  • Genetic Variation
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Restriction Mapping

Substances

  • Collagen