Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

@article{Lefvre2001NovelPM,
  title={Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lef{\`e}vre syndrome.},
  author={Caroline Lef{\'e}vre and Claudine Blanchet-Bardon and Florence Jobard and Bakar Bouadjar and Jean François Stalder and Susan Cure and Alexander Hoffmann and J F Prud'homme and Judith Fischer},
  journal={The Journal of investigative dermatology},
  year={2001},
  volume={117 6},
  pages={1657-61}
}
Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition. Mutations in the CTSC gene that encodes cathepsin C have been described in families affected with Papillon--Lefèvre syndrome. Cathepsin C is the least understood of the lysosomal cysteine proteases; it has been reported to participate in both intracellular and extracellular cleavage of proteins and activation of serine proteases in immune and… CONTINUE READING
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