Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex

John Y.W. Lee, Lu Liu, Chao-Kai Hsu, Sophia Aristodemou, Linda Ozoemena, Malobi Ogboli, Celia Moss, Anna E. Martinez, Jemima E. Mellerio, John A. McGrath

Research output: Contribution to journalLetterpeer-review

40 Citations (Scopus)
215 Downloads (Pure)
Original languageEnglish
Pages (from-to)1378-1380
JournalJournal of Investigative Dermatology
Volume137
Issue number6
Early online date19 Jan 2017
DOIs
Publication statusE-pub ahead of print - 19 Jan 2017

Keywords

  • Epidermolysis bullosa simplex
  • KLHL24
  • keratin 14
  • ubiquitination
  • genetic heterogeneity
  • mutation

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