Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta

Mutations in type I collagen cause classic osteogenesis imperfecta, an autosomal dominant disease; however, a recessive form has long been suspected. The authors showed that deficiency in the cartilage-associated protein, required for the post-translational prolyl 3-hydroxylation of collagen, was as...

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