Cargando…
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome
BACKGROUND: PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene. Dipeptidyl-peptidase I encoded by the CTSC gene removes dipeptides from the amino-terminus of protein substrat...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2003
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC183830/ https://www.ncbi.nlm.nih.gov/pubmed/12857359 http://dx.doi.org/10.1186/1471-2350-4-5 |