1. These features are in the genes for type I collagen;Am J Hum Genet,1988
2. very similar to those of human type I;Chu, M.L.; Williams, C.J.; Pepe, G.; Hirsch, J.L.; Prockop, D.J.;Nature; classical autosomal dominant mild type of this Ramirez F. Internal deletion in a collagen gene in a peripheral lethal form of osteogenesis imperfecta,1983
3. Lethal disease.20 Cultured fibroblasts from many cases of perinatal osteogenesis imperfecta due to the substitution of human OI I have decreased levels of COLlAl mRNA and reduced production of proal(I) chains.20 The arginine for glycine at residue 391 of the al(I) chain of type I collagen;Bateman, J.F.; Chan, D.; Walker, I.D.; Rogers, J.G.; Cole, W.G.;J Biol Chem,1987
4. Lethal osteogenesis imperfecta resulting from a single nucleotide the cell and did not associate with normal chains.20 change in one human pro alpha;Cohn, D.H.; Byers, P.H.; Steinmann, B.; Gelinas, R.E.,1986
5. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta;Bateman, J.F.; Mascara, T.; Chan, D.; Cole, W.G.;Biochemj; homozygous frameshift mutation owing to a four base pair deletion in the COL1A2 gene was reported in a,1984