The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

B. Drera, M. Ritelli, G. Tadini, N. Zoppi, M. Venturini, P. G. Calzavara-Pinton, S. Barlati, M. Colombi

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)222-225
Number of pages4
JournalJournal of Dermatological Science
Issue number3
Publication statusPublished - Mar 2009


  • Cartilage matrix protein subdomain
  • COL7A1 gene
  • Dystrophic epidermolysis bullosa
  • Splicing mutation
  • Type VII collagen

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Molecular Biology

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