Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

John Y.W. Lee, Assem Farag, Amira Tawdy, Lu Liu, Magdalene Michael, Ellie Rashidghamat, Sophia Aristodemou, Chao Kai Hsu, Michael A. Simpson, Maddy Parsons, John A. McGrath

Research output: Contribution to journalLetterpeer-review

5 Citations (Scopus)
Original languageEnglish
Pages (from-to)198-201
Number of pages4
JournalJournal of Dermatological Science
Issue number2
Publication statusPublished - 2018 Feb

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

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