Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

@article{Uitto1994MolecularBF,
  title={Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene},
  author={Jouni Uitto and Angela M. Christiano},
  journal={Archives of Dermatological Research},
  year={1994},
  volume={287},
  pages={16-22}
}
Significant progress has recently been made in understanding the molecular basis of heritable skin diseases, such as epidermolysis bullosa, a group of mechano-bullous genodermatoses. In particular, the dystrophic forms of epidermolysis bullosa have been shown to result from distinct mutations in the gene encoding type VII collagen, the major, if not the exclusive, component of the anchoring fibrils. These mutations result in deficient synthesis and/or altered assembly of the anchoring fibrils… CONTINUE READING

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