A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome.
Nakamura
Motonobu
M
Tokura
Yoshiki
Y
D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005528:Foot / Q000473:pathology; D052138:Genes, Neoplasm / Q000235:genetics; D006225:Hand / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface