MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO))

MMPs, which degrade components of the ECM, have roles in embryonic development, tissue repair, cancer, arthritis, and cardiovascular disease. We show that a missense mutation of MMP13 causes the Missouri type of human spondyloepimetaphyseal dysplasia (SEMD(MO)), an autosomal dominant disorder charac...

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Hauptverfasser: Kennedy, Ann M., Inada, Masaki, Krane, Stephen M., Christie, Paul T., Harding, Brian, López-Otín, Carlos, Sánchez, Luis M., Pannett, Anna A.J., Dearlove, Andrew, Hartley, Claire, Byrne, Michael H., Reed, Anita A.C., Nesbit, M. Andrew, Whyte, Michael P., Thakker, Rajesh V.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2005
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1201660/
https://ncbi.nlm.nih.gov/pubmed/16167086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI22900
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