Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.

@article{Fujii2003MutationsIT,
  title={Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.},
  author={Katsunori Fujii and Yoichi Kohno and Katsuo Sugita and Mihoko Nakamura and Yoichi Moroi and Kazunori Urabe and Masutaka Furue and Masao Yamada and Toshiyuki Miyashita},
  journal={Human mutation},
  year={2003},
  volume={21 4},
  pages={451-2}
}
Mutations in the human homologue of Drosophila patched (PTCH) have been identified in patients with nevoid basal cell carcinoma syndrome (NBCCS; also called Gorlin syndrome) as well as sporadic basal cell carcinomas and medulloblastomas. However, using PCR-SSCP analysis, mutations in PTCH have been found in only a fraction (about one third to a half) of NBCCS patients. In this study, we determined the whole genomic organizations of the PTCHgene and developed a new set of more accurate primers… CONTINUE READING

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Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Orphanet journal of rare diseases • 2008
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Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review.

Pediatrics international : official journal of the Japan Pediatric Society • 2014

"PTCH"-ing it together: a basal cell nevus syndrome review.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] • 2013

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