Author pages are created from data sourced from our academic publisher partnerships and public sources.
- Publications
- Influence
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen
- A. M. Pasmooij, G. van der Steege, +4 authors M. Jonkman
- Biology, Medicine
- The British journal of dermatology
- 1 September 2004
Background Mutations in COL17A1, coding for type XVII collagen, cause junctional epidermolysis bullosa with an ultrastructural plane of cleavage through the lamina lucida of the epidermal basement… Expand
Coexistence of IgA antibodies to desmogleins 1 and 3 in pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus
- L. Mentink, M. C. de Jong, G. Kloosterhuis, J. Zuiderveen, M. Jonkman, H. Pas
- Medicine, Biology
- The British journal of dermatology
- 1 August 2004
Background Pemphigus is a bullous mucocutaneous autoimmune disease characterized by IgG autoantibodies to desmoglein (Dsg) 1 and/or Dsg3. Occasionally direct immunofluorescence of pemphigus skin… Expand
A very mild form of non‐Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain
- A. M. Pasmooij, S. van Zalen, +4 authors H. Pas
- Medicine, Biology
- Experimental dermatology
- 1 February 2004
Abstract: Mutations in the gene COL17A1 cause non‐Herlitz junctional epidermolysis bullosa. Here, we describe a patient who, despite two heterozygous mutations in COL17A1, has an extremely mild form… Expand