title: The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Sugiura
authors.forename: T
authors.initials: T
authors.lastname: Takeichi
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D000328:Adult; D020789:Cathepsin C / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D010214:Papillon-Lefevre Disease / Q000235:genetics*; D014070:Tooth
chemical_list: D018389:Codon, Nonsense; C533918:CTSC protein, human; D020789:Cathepsin C