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

AuthorsDedee 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
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 127 Issue 7 Pg. 1772-5 (Jul 2007) ISSN: 1523-1747 [Electronic] United States
PMID17344927 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Autoantigens
  • Non-Fibrillar Collagens
  • collagen type XVII
Topics
  • Autoantigens (genetics)
  • Chromosome Mapping
  • Dental Enamel Hypoplasia (genetics)
  • Epidermolysis Bullosa, Junctional (diagnosis, genetics, immunology)
  • Female
  • Fluorescent Antibody Technique
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mutation (genetics)
  • Non-Fibrillar Collagens (genetics)
  • Pedigree
  • Retrospective Studies

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