Osteogenesis imperfecta. A model for genetic causes of osteoporosis and perhaps several other common diseases of connective tissue.
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abstract
Recent studies of patients with the heritable disorder, osteogenesis imperfecta (OI), have demonstrated that a number of OI patients have mutations in one of the two structural genes that code for type I procollagen (1-3). In addition, data we have obtained on one family illustrate how gene analysis can define the genetic component in one form of osteoporosis.