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

Abstract:

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 characterized by defective growth and modeling of vertebrae and long bones. Genome-wide linkage analysis mapped SEMD(MO) to a 17-cM region on chromosome 11q14.3-23.2 that contains a cluster of 9 MMP gene...

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Publication status:
Published

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Publisher copy:
10.1172/jci22900

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Journal:
Journal of clinical investigation
Volume:
115
Issue:
10
Pages:
2832-2842
Publication date:
2005-10-01
DOI:
EISSN:
1558-8238
ISSN:
0021-9738
Source identifiers:
16822

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