Article
Osteogenesis imperfecta.
Annual review of medicine - 1 Jan 1992
Byers P H, Steiner R D
Abstract excerpt
Recent biochemical, linkage, and molecular genetic studies have demonstrated that, in almost every instance, osteogenesis imperfecta results from mutations in the genes that encode the chains of type I collagen. Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads into molecular diagnosis and prognostic counseling....
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