Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV

Hum Mol Genet. 1994 Mar;3(3):511-2. doi: 10.1093/hmg/3.3.511.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Glutamates / metabolism*
  • Glutamic Acid
  • Glycine / metabolism*
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Procollagen / chemistry
  • Procollagen / genetics*

Substances

  • Glutamates
  • Procollagen
  • Glutamic Acid
  • Glycine