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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...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC183830/ https://ncbi.nlm.nih.gov/pubmed/12857359 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-4-5 |
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