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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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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2010
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| Pynciau: | |
| Mynediad Ar-lein: | 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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