Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa

Takuji Masunaga, Masataka Saito, Takashi Sasaki, Akiharu Kubo, Masayuki Amagai, Akira Ishiko

Research output: Contribution to journalArticle

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)220-223
Number of pages4
JournalJournal of Dermatological Science
Volume80
Issue number3
DOIs
Publication statusPublished - 2015 Dec 1

Keywords

  • Genodermatosis
  • Recurrent mutation
  • Skin blistering
  • Splice site mutation
  • Type VII collagen

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Molecular Biology

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