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Article

Molecular basis of osteogenesis imperfecta and related disorders of bone.

Clinics in plastic surgery - 1 Jul 1994

Prockop D J, Kuivaniemi H, Tromp G

Abstract excerpt

Recent work has demonstrated that more than 90% of patients with osteogenesis imperfecta (OI) have mutations in the gene for either the pro alpha 1 (I) chain or the gene for the pro alpha 2 (I) chain of type I procollagen. Three molecular mechanisms have explained the devastating effects of these mutations. In addition, the data provide several general conclusions about mutations in collagen genes. Studies in...

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PMID: 7924138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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