A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

Hum Mutat. 1997;9(1):62-3. doi: 10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Glycine / genetics*
  • Hot Temperature
  • Humans
  • Procollagen / genetics
  • Procollagen / metabolism*
  • Serine / genetics*

Substances

  • Procollagen
  • Serine
  • Glycine