Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation

Background We have previously reported oxidative and fatty acids disturbances in one Papillon–Lefèvre syndrome (PLS) family. This Mendelian condition characterized by palmar plantar keratosis and severe aggressive periodontitis, is caused by mutations in the cathepsin C (CTSC) gene. In this study, w...

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Veröffentlicht in:	Journal of the European Academy of Dermatology and Venereology 2014-08, Vol.28 (8), p.1049-1056
Hauptverfasser:	Bullón, P., Morillo, J.M., Thakker, N., Veeramachaneni, R., Quiles, J.L., Ramírez-Tortosa, M.C., Jaramillo, R., Battino, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Child, Preschool Fatty Acids - metabolism Female Humans Infant Male Middle Aged Mutation Oxidative Stress Papillon-Lefevre Disease - genetics Papillon-Lefevre Disease - metabolism Pedigree Polymerase Chain Reaction
Online-Zugang:	Volltext
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