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STRUCTURAL AND FUNCTIONAL CHARACTERISATION OF RECOMBINANT MATRILIN-3 A-DOMAIN AND IMPLICATIONS FOR HUMAN GENETIC BONE DISEASES
Mutations in matrilin-3 result in multiple epiphyseal dysplasia (MED), which is characterized by delayed and irregular bone growth and early onset osteoarthritis. The majority of disease-causing mutations are located within the β-sheet of the single A-domain of matrilin-3, suggesting that they disru...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2673055/ https://ncbi.nlm.nih.gov/pubmed/17881354 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M705301200 |
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