Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome.
Abe
Shoko
S
Kabashima
Kenji
K
Sakabe
Junichi
J
Shimauchi
Takatoshi
T
Yan
Zhang
Z
Okamoto
Tetsuji
T
Tokura
Yoshiki
Y
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*
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface