Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

Hum Genet. 2010 Jan;127(1):116-7.
No abstract available

MeSH terms

  • Adult
  • Codon / genetics
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Mutation, Missense*
  • Spain

Substances

  • Codon
  • Collagen Type VII