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Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the α I (X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type schmid
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Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
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