Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions. A major gene locus for PLS has been mapped to a 2.8 cM interval on chromoso...

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Main Authors: Hart, T., Hart, P, Bowden, D., Michalec, M., Callison, S., Walker, S., Zhang, Y., Firatli, E.
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 1999
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734286/
https://ncbi.nlm.nih.gov/pubmed/10593994
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