Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

@article{Dang2008MutationAA,
  title={Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.},
  author={Ningning Dang and D{\'e}d{\'e}e F Murrell},
  journal={Experimental dermatology},
  year={2008},
  volume={17 7},
  pages={553-68}
}
Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 in different variants of DEB; many mutations are clustered in exon 73 (10.74%) which is close to the 39 amino acid interruption region. Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the… CONTINUE READING

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