Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects

Dedee F. Murrell*, Anna M. G. Pasmooij, Hendri H. Pas, Penelope Marr, Sandra Klingberg, Ellen Pfendner, Jouni Uitto, Sara Sadowski, Felicity Collins, Richard Widmer, Marcel F. Jonkman

*Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

31 Citations (Scopus)
Original languageEnglish
Pages (from-to)1772-1775
Number of pages4
JournalJournal of Investigative Dermatology
Volume127
Issue number7
DOIs
Publication statusPublished - Jul-2007

Keywords

  • XVII COLLAGEN
  • PEMPHIGOID ANTIGEN
  • AMELOGENESIS IMPERFECTA
  • GLYCINE SUBSTITUTION
  • BP180
  • COL17A1
  • CLASSIFICATION
  • MUTATIONS

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