title: Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome.
authors.forename: Shoko
authors.initials: S
authors.lastname: Abe
authors.forename: Kenji
authors.initials: K
authors.lastname: Kabashima
authors.forename: Junichi
authors.initials: J
authors.lastname: Sakabe
authors.forename: Takatoshi
authors.initials: T
authors.lastname: Shimauchi
authors.forename: Zhang
authors.initials: Z
authors.lastname: Yan
authors.forename: Tetsuji
authors.initials: T
authors.lastname: Okamoto
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Tokura
mesh_terms: D000328:Adult; D000368:Aged; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D020641:Polymorphism, Single Nucleotide; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface