Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family

J Dermatol. 2015 Jan;42(1):95-6. doi: 10.1111/1346-8138.12696. Epub 2014 Nov 25.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • China
  • Collagen Type III / genetics*
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense

Substances

  • COL3A1 protein, human
  • Collagen Type III