Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.

@article{Kon1997NovelGS,
  title={Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.},
  author={Atsushi Kon and Kazuo Nomura and Leena Pulkkinen and Daisuke Sawamura and Isao Hashimoto and Jouni Uitto},
  journal={The Journal of investigative dermatology},
  year={1997},
  volume={109 5},
  pages={684-7}
}
Mutations in the type VII collagen gene (COL7A1) have been shown to underlie dystrophic epidermolysis bullosa (DEB). The dominantly inherited forms of DEB have been divided into two clinical subcategories, the Pasini (DDEB-P) and the Cockayne-Touraine (DDEB-CT) variants, on the basis of the presence or absence of albopapuloid lesions. In this study, we have examined the molecular basis of DDEB in two Japanese families, one with DDEB-P and the other with DDEB-CT. Mutation detection strategy… CONTINUE READING

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