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Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations
Cathepsin K (CTSK) is an important protease responsible for degrading type I collagen, osteopontin, and other bone matrix proteins. The mutations in the CTSK gene can cause pycnodysostosis (OMIM 265800), a rare autosomal recessive bone dysplasia. Patients with pycnodysostosis have been reported to p...
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| Publicado no: | J Dent Res |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6728695/ https://ncbi.nlm.nih.gov/pubmed/25731711 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0022034515573964 |
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