CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

Papillon–Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a tot...

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Detalles Bibliográficos
Autores principales: Nagy, Nikoletta, Vályi, Péter, Csoma, Zsanett, Sulák, Adrienn, Tripolszki, Kornélia, Farkas, Katalin, Paschali, Ekaterine, Papp, Ferenc, Tóth, Lola, Fábos, Beáta, Kemény, Lajos, Nagy, Katalin, Széll, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049362/
https://www.ncbi.nlm.nih.gov/pubmed/24936511
http://dx.doi.org/10.1002/mgg3.61

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