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Triplet duplication in alpha1 collagen chain of proband with lethal osteogenesis imperfecta shifts register of alpha chains in helix and alters incorporation of mutant trimers into fibris and ECM


Triplet duplication in alpha1 collagen chain of proband with lethal osteogenesis imperfecta shifts register of alpha chains in helix and alters incorporation of mutant trimers into fibris and ECM



American Journal of Human Genetics 69(4 Suppl): 635



ISSN/ISBN: 0002-9297


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Accession: 035987410

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Related references

Triplet duplication in alpha1 collagen chain of proband with lethal osteogenesis imperfecta shifts register of alpha chains in helix and alters incorporation of mutant trimers into fibrils and ECM. European Journal of Human Genetics 9(Suppl 1): P1221, 2001

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix. Journal of Biological Chemistry 278(12): 10006-10012, 2003

Type I collagen mutation that shifts the register of alpha chains by one Gly-X-Y triplet disrupts incorporation of mutant trimers into fibrils and ECM and causes lethal osteogenesis imperfecta. Pediatric Research 51(4 Part 2): 68A, 2002

Type I Collagen Triplet Duplication Mutation in Lethal Osteogenesis Imperfecta Shifts Register of a Chains throughout the Helix and Disrupts Incorporation of Mutant Helices into Fibrils and Extracellular Matrix. The Journal of Biological Chemistry 278(12): 006-12, 2003

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Incorporation of type I collagen molecules that contain a mutant α2(I) chain(Gly580→Asp) into bone matrix in a lethal case of osteogenesis imperfecta. The Journal of Biological Chemistry 267(32): 23108-23112, 1992

Incorporation of type I collagen molecules that contain a mutant a2(I) chain (Gly580 - > Asp) into bone matrix in a lethal case of osteogenesis imperfecta. The Journal of Biological Chemistry 267: 108-12, 1992

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. Journal of Biological Chemistry 265(30): 18628-18633, 1990