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

Human mutation - 1 Apr 2003

Fujii Katsunori, Kohno Yoichi, Sugita Katsuo, Nakamura Mihoko, Moroi Yoichi, Urabe Kazunori, Furue Masutaka, Yamada Masao, Miyashita Toshiyuki

Abstract excerpt

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...

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PMID: 12655573
DOI: 10.1002/humu.9132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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