Functional Cathepsin C mutations cause different Papillon–Lefèvre syndrome phenotypes

Functional Cathepsin C mutations cause different Papillon–Lefèvre syndrome phenotypes

Source :

• Journal of Clinical Periodontology [ 0303-6979 ] ; 2008-04.

Descripteurs français

• Wicri :
  • topic : Génétique.

English descriptors

• KwdEn :
  • Accession, Aggressive periodontitis, Atypical, Atypical cases, Cathepsin, Clinical periodontology, Complete loss, Ctsc, Ctsc gene, Ctsc mutations, Ctsg, Dentition, Differential diagnosis, Eickholz, Environmental factors, Genbank, Genbank accession, Genetics, Haar, Healthy controls, Heterozygous carriers, Hewitt, Human mutation, Hyperkeratosis, Journal compilation, Keratosis, Late onset, Lefevre, Lefevre syndrome, Medical genetics, Missense, Missense mutations, Mutation, Mutation analyses, Mutation analysis, Ndings, Noack, Novel mutation, Novel mutations, Palmoplantar, Palmoplantar hyperkeratosis, Palmoplantar keratosis, Papillon, Pathogenic role, Periodontal, Periodontitis, Periodontology, Permanent dentition, Permanent teeth, Pham, Phenotype, Phenotypic, Phenotypic variability, Premature tooth loss, Primer, Protease, Serine, Severe periodontitis, Syndrome, Zhang.
• Teeft :
  • Accession, Aggressive periodontitis, Atypical, Atypical cases, Cathepsin, Clinical periodontology, Complete loss, Ctsc, Ctsc gene, Ctsc mutations, Ctsg, Dentition, Differential diagnosis, Eickholz, Environmental factors, Genbank, Genbank accession, Genetics, Haar, Healthy controls, Heterozygous carriers, Hewitt, Human mutation, Hyperkeratosis, Journal compilation, Keratosis, Late onset, Lefevre, Lefevre syndrome, Medical genetics, Missense, Missense mutations, Mutation, Mutation analyses, Mutation analysis, Ndings, Noack, Novel mutation, Novel mutations, Palmoplantar, Palmoplantar hyperkeratosis, Palmoplantar keratosis, Papillon, Pathogenic role, Periodontal, Periodontitis, Periodontology, Permanent dentition, Permanent teeth, Pham, Phenotype, Phenotypic, Phenotypic variability, Premature tooth loss, Primer, Protease, Serine, Severe periodontitis, Syndrome, Zhang.

Abstract

• https://api.istex.fr/document/6AE79E319D53E58B4AFF7B465AE44C5B5373B39A/fulltext/pdf

Affiliations:

• Allemagne, Pologne
• District de Darmstadt, Hesse (Land)
• Francfort-sur-le-Main

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