Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis

@article{Nusgens1992EvidenceFA,
  title={Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis},
  author={Betty V. Nusgens and Ch. Verellen-Dumoulin and Trinh Hermanns-L{\^e} and Anne De Paepe and Lieve Nuytinck and G{\'e}erald E. Pi{\'e}rard and Ch. M. Lapi{\`e}re},
  journal={Nature Genetics},
  year={1992},
  volume={1},
  pages={214-217}
}
Ehlers–Danlos (ED) syndrome type VII is characterized by the accumulation of collagen precursors in connective tissues. ED VII A and B are caused by mutations in the genes of α1 and α2 collagen I which result in the disruption of the cleavage site of procollagen I N–proteinase. The existence of ED VII C in humans has been hypothesized on the basis of a disorder in cattle and sheep related to the absence of the enzyme. We now present evidence for the existence of this disease in humans… CONTINUE READING

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