Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

@article{Scheffer1997ImplicationsOI,
  title={Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa},
  author={H. Scheffer and Rein P. Stulp and Edwin Verlind and Martin A. van der Meulen and Leena Bruckner-Tuderman and Tobias Gedde-Dahl and Gerard J. te Meerman and Arnoud Sonnenberg and C. H. Buys and Marcel F. Jonkman},
  journal={Human Genetics},
  year={1997},
  volume={100},
  pages={230-235}
}
Generalised atrophic benign epidermolysis bullosa (GABEB) is a form of junctional epidermolysis bullosa with a recessive mode of inheritance. The gene considered likely to be involved in this disease is COL17A1, since in the majority of GABEB patients the product of that gene, the 180-kD bullous pemphigoid antigen (BP180), is undetectable in skin. We have… CONTINUE READING