title: 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.
authors: Toyoko
authors: T
authors: Ochiai
authors: Hajime
authors: H
authors: Nakano
authors: Daiki
authors: D
authors: Rokunohe
authors: Eijiro
authors: E
authors: Akasaka
authors: Yuka
authors: Y
authors: Toyomaki
authors: Yoshihiko
authors: Y
authors: Mitsuhashi
authors: Daisuke
authors: D
authors: Sawamura
mesh_terms: 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
chemical_list: D020789:Cathepsin C