Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

@article{Ryynnen1992GeneticLO,
  title={Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.},
  author={Markku Ryyn{\"a}nen and Jari Ryyn{\"a}nen and Stephan Sollberg and Rentato V. Iozzo and Robert G. Knowlton and Jouni Uitto},
  journal={The Journal of clinical investigation},
  year={1992},
  volume={89 3},
  pages={
          974-80
        }
}
Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the dystrophic (scarring) forms of EB have suggested abnormalities in anchoring fibrils, morphologically recognizable attachment structures that provide stability to the association of the cutaneous basement membrane to the underlying dermis. Since type VII collagen is the major component of the anchoring fibrils, we examined the genetic linkage of dominant dystrophic EB (EBDD… CONTINUE READING

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