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Pseudoachondroplasia/COMP — translating from the bench to the bedside
Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal joints and early onset osteoarthritis. PSACH is caused by mutations in thrombospondin-5 (TSP-5, also known as cartilage oligomeric matrix protein or COMP), a pentameri...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4209947/ https://ncbi.nlm.nih.gov/pubmed/24892720 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.matbio.2014.05.006 |
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