Article
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
The Journal of biological chemistry - 5 Feb 1993
Marini J C, Lewis M B, Wang Q, Chen K J, Orrison B M
Abstract excerpt
Serine for glycine substitutions in type I collagen have been described in seven cases of lethal type II osteogenesis imperfecta (OI), and six cases of nonlethal OI. We describe here two cases of moderately severe type IV OI with serine substitutions at alpha 1(I) Gly352 and alpha 2(I) Gly922, respectively. In both cases, G-->A point mutations were detected by RNase A cleavage of RNA/RNA and RNA/DNA hybrids....
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