Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review

Clin Exp Dermatol. 2021 Jul;46(5):987-989. doi: 10.1111/ced.14568. Epub 2021 Mar 3.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Collagen Type V / genetics*
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Glycine / genetics*
  • Humans
  • Mutation, Missense*

Substances

  • COL5A1 protein, human
  • Collagen Type V
  • Glycine

Associated data

  • RefSeq/NM_000088.3
  • RefSeq/NM_000093.5