A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.
Honma
Masaru
M
Ohishi
Yasushi
Y
Uehara
Jiro
J
Ibe
Masaki
M
Kinouchi
Motoshi
M
Ishida-Yamamoto
Akemi
A
Iizuka
Hajime
H
D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface