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Date Submitted:
12/12/07
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Gene Found for Form of Brittle Bone Disease
Description:
Researchers at the National Institutes of Health (NIH) say they've pinpointed a genetic defect responsible for a form of brittle bone disease. Most forms of Osteogenesis Imperfecta (OI), a disorder that weakens bones, leads to frequent fractures and can even lead to death in infants, is caused by a defect in the genes that contain information for type I collagen, which is the material that holds bones, tendons, skin and other tissues together. About 10 percent to 15 percent of OI patients do not have a defect in these genes.
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