A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa

Acta Derm Venereol. 2003;83(2):137-8. doi: 10.1080/00015550310007526.
No abstract available

Publication types

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

MeSH terms

  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Genes, Recessive / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation
  • Procollagen / genetics*

Substances

  • Collagen Type VII
  • Procollagen

Associated data

  • GENBANK/L02870
  • GENBANK/L23982