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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.
Cabral, Wayne A; Mertts, Marianna V; Makareeva, Elena et al.
2003In Journal of Biological Chemistry, 278 (12), p. 10006-12

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