Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.

Source:http://linkedlifedata.com/resource/pubmed/id/2211725

J. Biol. Chem. 1990 Oct 25 265 30 18628-33

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2211725