Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

@article{Aszterbaum1998IdentificationOM,
  title={Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.},
  author={Michelle Aszterbaum and Alan L Rothman and Ronald L. Johnson and Mary Catherine Fisher and Jingwu Xie and Jeannette M. Bonifas and Xiaoyu Zhang and Matthew P Scott and Ervin H. Epstein},
  journal={The Journal of investigative dermatology},
  year={1998},
  volume={110 6},
  pages={885-8}
}
Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and in sporadic basal cell carcinomas. We have screened the 23 PTC exons for mutations using single strand conformation polymorphism analysis of DNA from 86 basal cell nevus syndrome probands, 26 sporadic basal cell carcinomas, and seven basal cell nevus syndrome-associated basal cell carcinomas. This screen identified… CONTINUE READING
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