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The chondrodystrophy, nanomelia: biosynthesis and processing of the defective aggrecan precursor.
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Schwartz, Nancy B.
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cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.
Academic Article
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Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities.
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Domowicz, Miriam
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Vye, Malcolm
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