Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: implications for understanding the genotype/phenotype relationship.
Ochiai
Toyoko
T
Nakano
Hajime
H
Rokunohe
Daiki
D
Akasaka
Eijiro
E
Toyomaki
Yuka
Y
Mitsuhashi
Yoshihiko
Y
Sawamura
Daisuke
D
D000328:Adult; D020789:Cathepsin C / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation / Q000235:genetics*; D010214:Papillon-Lefevre Disease / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
D020789:Cathepsin C