TY  - JOUR
AU  - Allende Martínez, Luis Miguel
AU  - García Pérez, Miguel Ángel
AU  - Moreno, Ángel
AU  - Corell, Alfredo
AU  - Carasol, Miguel
AU  - Martínez Canut, Pedro
AU  - Arnaiz Villena, Antonio
PY  - 2001
DO  - 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-%23
SN  - 1098-1004
UR  - https://hdl.handle.net/20.500.14352/98034
T2  - Human Mutation: Variation, Informatics and Disease
AB  - Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of...
LA  - eng
M2  - 152
PB  - Wiley
KW  - Cathepsin C
KW  - CTSC
KW  - Papillon-Lefèvre syndrome
KW  - Haim-Munk syndrome
KW  - retinoid therapy
KW  - CD3 activation pathway
TI  - Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
TY  - journal article
VL  - 17
ER  -