Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome

Aim: To search for patched homologue 1 (PTCH1) mutations in four families with basal cell nevus syndrome (BCNS). Methods: Mutation analysis of PTCH1 in unrelated Japanese families affected with BCNS was carried out by direct sequencing. Results: Six novel PTCH1 mutations, 833G→A in exon 6, 1415C→A a...

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