Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing

Acta Derm Venereol. 2015 May;95(5):629-31. doi: 10.2340/00015555-2019.
No abstract available

Publication types

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

MeSH terms

  • Biopsy, Needle
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / diagnosis*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Female
  • Genes, Dominant
  • Genetic Predisposition to Disease*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunohistochemistry
  • Infant
  • Mutation
  • Sequence Analysis, DNA
  • Severity of Illness Index

Substances

  • COL7A1 protein, human
  • Collagen Type VII