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New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome
British Journal of Oral & Maxillofacial Surgery, 06/15/09
Wang W et al. - The findings suggest that the 3146A-T mutation in the PTCH gene may be the cause of NBCCS by affecting the conformation and function of the PTCH protein.
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