Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

@article{Varki2007EpidermolysisBI,
  title={Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.},
  author={Roslyn Varki and Sara G Sadowski and Jouni Uitto and Ellen G Pfendner},
  journal={Journal of medical genetics},
  year={2007},
  volume={44 3},
  pages={181-92}
}
BACKGROUND The dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering disorders, show considerable phenotypic variability, and both autosomal dominant and autosomal recessive inheritance can be recognised. DEB is derived from mutations in the type VII collagen gene (COL7A1), encoding a large collagenous protein that is the predominant, if not exclusive, component of the anchoring fibrils at the dermal-epidermal junction. METHODS The Dystrophic Epidermolysis Bullosa… CONTINUE READING
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