Article
Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.
The Journal of investigative dermatology - 1 Jan 2002
Huber Marcel, Floeth Michaela, Borradori Luca, Schäcke Heike, Rugg Elizabeth L, Lane E Birgitte, Frenk Edgar, Hohl Daniel, Bruckner-Tuderman Leena
Abstract excerpt
BP180/collagen XVII is a hemidesmosomal transmembrane molecule serving as cell-surface receptor. Mutations in its gene cause junctional epidermolysis bullosa. Here, we report a patient with mutations in the gene for BP180/collagen XVII, COL17A1, but predominant phenotypic features of epidermolysis bullosa simplex. At birth, the proband presented with bullous lesions on the trunk, face, and hands....
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