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A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre Syndrome
Papillon-Lefevre syndrome (PLS; OMIM 245000) is an autosomal recessive disease caused by cathepsin C (CTSC) gene and is clinically characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and ginigivitis followed by teeth loss. CTSC gene is known to be expressed in s...
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| Hoofdauteurs: | , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2010
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2921986/ https://ncbi.nlm.nih.gov/pubmed/20236208 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1468-3083.2010.03575.x |
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