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. [electronic resource]
Producer: 19890309Description: 574-84 p. digitalISSN:- 0021-9738
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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