Title : Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

Pub. Date : 1997 May-Jun

PMID : 9272740






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1 Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain. Glycine collagen type I alpha 2 chain Homo sapiens
2 Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the alpha2(I) collagen chain are presented. Glycine collagen type I alpha 2 chain Homo sapiens
3 Findings show that the phenotypic severity of serine for glycine substitutions in the alpha2(I) collagen chain is region dependent similar to the observations for the alpha1(I) collagen chain, and that so-called "lethal" and "non-lethal" domains in the alpha1 and alpha2 collagen chains do not necessarily correspond. Glycine collagen type I alpha 2 chain Homo sapiens