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American Journal of Medical Genetics|January 15, 1993
Molecular heterogeneity in osteogenesis imperfecta type IM C Willing, C J Pruchno, P H ByersAmerican Journal of Human Genetics|September 1, 1992
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagenM C Willing, C J Pruchno, M Atkinson, et al.Human Genetics|May 1, 1991
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagenC J Pruchno, D H Cohn, G A Wallis, et al.The Journal of Clinical Investigation|January 1, 1990
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type IM C Willing, D H Cohn, P H ByersJournal of Medical Genetics|July 4, 2001
Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfectaJ M Pace, C D Kuslich, M C Willing, et al.American Journal of Human Genetics|May 1, 1990
Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfectaR J Wenstrup, M C Willing, B J Starman, et al.Human Mutation|October 23, 2001
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfectaJ M Pace, M Atkinson, M C Willing, et al.The Journal of Biological Chemistry|June 15, 1988
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfectaM C Willing, D H Cohn, B Starman, et al.American Journal of Human Genetics|October 1, 1994
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenM C Willing, S P Deschenes, D A Scott, et al.Clinical Genetics|November 15, 2000
Collagens: building blocks at the end of the development lineP H ByersPageof 16