Nová mutace v genu pro katepsin C v české rodině s Papillon-Lefevre syndromem

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Title in English New mutation in the cathepsin C gene in Czech family with Papillon-Lefevre syndrome
Authors

IZAKOVIČOVÁ HOLLÁ Lydie KUKLETOVÁ Martina FASSMANN Antonín SAZMOVÁ Věra VANĚK Jiří

Year of publication 2007
Type Article in Proceedings
Conference VI. Jindřichohradecké dny - abstrakta
MU Faculty or unit

Faculty of Medicine

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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