Nová mutace v genu pro katepsin C v české rodině s Papillon-Lefevre syndromem
| Title in English | New mutation in the cathepsin C gene in Czech family with Papillon-Lefevre syndrome |
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| Authors | |
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | VI. Jindřichohradecké dny - abstrakta |
| MU Faculty or unit | |
| Citation | |
| Field | ORL, ophthalmology, stomatology |
| Keywords | gene; mutation; Papillon-Lefevre syndrome; cathepsin C |
| Description | Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by severe early-onset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). The aim of this study was analyzed the CTST gene in one Czech family with PLS. |
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