|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
|
25799584 |
2015 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
|
24936511 |
2014 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.
|
15991336 |
2005 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
|
14974080 |
2004 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
|
14974080 |
2004 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
|
15108292 |
2004 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.
|
12809647 |
2003 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.
|
12112662 |
2002 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
|
11180601 |
2001 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
|
11158173 |
2001 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
|
11180012 |
2001 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.
|
11886537 |
2001 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
|
11106356 |
2000 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
|
10662808 |
2000 |
|
Papillon-Lefevre Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
|
10581027 |
1999 |