Associated Papers
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
Cabral WA et al.
Journal of Medical Genetics, 2006
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?
Lund AM et al.
Human Mutation, 1997
Perinatal lethal osteogenesis imperfecta.
Cole WG et al.
Journal of Medical Genetics, 1995
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.
Rose NJ et al.
Human Genetics, 1994
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
Rose NJ et al.
Human Mutation, 1994
Select a paper to view details