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Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation

OBJECTIVE: Mutations in matrilin 3 can result in multiple epiphyseal dysplasia (MED), a disease characterized by delayed and irregular bone growth and early-onset osteoarthritis. Although intracellular retention of the majority of mutant matrilin 3 was previously observed in a murine model of MED ca...

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Autors principals: Bell, Peter A, Piróg, Katarzyna A, Fresquet, Maryline, Thornton, David J, Boot-Handford, Raymond P, Briggs, Michael D
Format: Artigo
Idioma:Inglês
Publicat: Wiley Subscription Services, Inc., A Wiley Company 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3374853/
https://ncbi.nlm.nih.gov/pubmed/22083516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.33486
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