Osteogenesis imperfecta calls for caution-first letter
- 1 May 1999
- journal article
- letter
- Published by Springer Nature in Nature Medicine
- Vol. 5 (5) , 466
- https://doi.org/10.1038/8326
Abstract
No abstract availableKeywords
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- A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.Journal of Clinical Investigation, 1989