A New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre Syndrome

• Author(s): Moura, AL ; Regateiro, FS ; Peres Resende, E ; Coimbra Silva, H ; Gonçalo, M ; Todo-Bom, A ; Faria, E
• Date: 2020
• Persistent ID: http://hdl.handle.net/10400.4/2358
• Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
• Subject(s): Catepsina C/genética; Doença de Papillon-Lefevre
• Document Type: Journal article
• Language: English
• Contributor(s): RIHUC