A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

Ghanei, Mahmoud; Abbaszadegan, Mohammad R; Forghanifard, Mohammad M; Aarabi, Azadeh; Arab, Hamidreza

Ghanei, Mahmoud; Abbaszadegan, Mohammad R; Forghanifard, Mohammad M; Aarabi, Azadeh; Arab, Hamidreza.

Afiliação

Ghanei M; Medical Genetics and Molecular Medicine Department, Medical school, Mashhad University of Medical Sciences, Mashhad, Iran.
Abbaszadegan MR; Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
Forghanifard MM; Medical Genetics and Molecular Medicine Department, Medical school, Mashhad University of Medical Sciences, Mashhad, Iran.
Aarabi A; Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
Arab H; Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.

Clin Exp Dent Res ; 7(4): 568-573, 2021 08.

Article em En | MEDLINE | ID: mdl-33586345

Assuntos

Catepsina C/genética; Doença de Papillon-Lefevre; Humanos; Irã (Geográfico); Mutação; Doença de Papillon-Lefevre/genética

Palavras-chave

Lefevre syndrome; Papillon; cathepsin C mutation; energy minimization; palmoplantar hyperkeratosis; tertiary structure

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Papillon-Lefevre / Catepsina C Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Papillon-Lefevre / Catepsina C Idioma: En Ano de publicação: 2021 Tipo de documento: Article