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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Autors principals: Selvaraju, Veeriah, Markandaya, Manjunath, Prasad, Pullabatla Venkata Siva, Sathyan, Parthasarathy, Sethuraman, Gomathy, Srivastava, Satish Chandra, Thakker, Nalin, Kumar, Arun
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2003
Matèries:
Research Article
Accés en línia: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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