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

Journal of Investigative Dermatology

Volumn 117, Issue 6, 2001, Pages 1657-1661

  Lefèvre, Caroline ^a   Blanchet Bardon, Claudine ^b   Jobard, Florence ^a   Bouadjar, Bakar ^c   Stalder, Jean François ^d   Cure, Susan ^e   Hoffmann, Aude ^a   Prud'Homme, Jean François ^f   Fischer, Judith ^a  

^a CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^b SAINT LOUIS HOSPITAL   (France)

^c Bab El Oued Hospital   (Algeria)

^d NANTES UNIVERSITY HOSPITAL   (France)

^e CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^f GÉNÉTHON   (France)

Author keywords

Cathepsin C mutations; Chromosome 11q14; Palmoplantar keratoderma; Papillon Lef vre syndrome; Periodontitis

Indexed keywords

CYSTEINE PROTEINASE; DIPEPTIDYL PEPTIDASE I; SERINE PROTEINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVATION; EUROPE; GENE DELETION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; IMMUNOCOMPETENT CELL; INFLAMMATORY CELL; KERATOSIS PALMOPLANTARIS; LYSOSOME; MISSENSE MUTATION; NORTH AFRICA; PERIODONTAL DISEASE; PERIODONTITIS; POINT MUTATION; PRIORITY JOURNAL; STRUCTURE ACTIVITY RELATION;

EID: 0035677951     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01595.x     Document Type: Article

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