Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients

INTRODUCTION—Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mut...

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Hoofdauteurs: Hart, P, Zhang, Y, Firatli, E, Uygur, C, Lotfazar, M, Michalec, M, Marks, J, Lu, X, Coates, B, Seow, W, Marshall, R, Williams, D, Reed, J, Wright, J, Hart, T
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2000
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734492/
https://ncbi.nlm.nih.gov/pubmed/11106356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.12.927
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