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  • Human MMP13 wild-type allele is located in the vicinity of 11q22.3 and is approximately 13 kb in length. This allele, which encodes collagenase 3 protein, is involved in collagen catabolism. Mutation of the gene is associated with both spondyloepimetaphyseal dysplasia Missouri type and metaphyseal anadysplasia type 1.
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