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New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome

✍ Scribed by Wei Wang; Jinhui Wang; Jichen Li; Limin Mao; Fulin Guo; Bin Zhang


Book ID
116317025
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
344 KB
Volume
47
Category
Article
ISSN
0266-4356

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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