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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Detalhes bibliográficos
Main Authors: Kennedy, A, Inada, M, Krane, S, Christie, P, Harding, B, López-Otín, C, Sánchez, L, Pannett, A, Dearlove, A, Hartley, C, Byrne, M, Reed, A, Nesbit, M, Whyte, M, Thakker, R
Formato: Journal article
Idioma:English
Publicado em: 2005