Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation
Schwarze, Ulrike, Starman, Barbra J., Byers, Peter H.
Published in American journal of human genetics (01.08.1999)
Published in American journal of human genetics (01.08.1999)
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Journal Article
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen
BYERS, P. H, TSIPOURAS, P, BONADIO, J. F, STARMAN, B. J, SCHWARTZ, R. C
Published in American journal of human genetics (01.02.1988)
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Published in American journal of human genetics (01.02.1988)
Journal Article
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the αI(I) gene (COLIAI) of type I collagen in a parent
WALLIS, G. A, STARMAN, B. J, ZINN, A. B, BYERS, P. H
Published in American journal of human genetics (1990)
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Published in American journal of human genetics (1990)
Journal Article
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype
Starman, B J, Eyre, D, Charbonneau, H, Harrylock, M, Weis, M A, Weiss, L, Graham, Jr, J M, Byers, P H
Published in The Journal of clinical investigation (01.10.1989)
Published in The Journal of clinical investigation (01.10.1989)
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A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase
Wallis, G A, Kadler, K E, Starman, B J, Byers, P H
Published in The Journal of biological chemistry (15.12.1992)
Published in The Journal of biological chemistry (15.12.1992)
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Kinetic characterization of rat serum dopamine-beta-hydroxylase using a simplified radioenzymatic assay
Henry, D P, Johnson, D G, Starman, B J, Williams, R H
Published in Life sciences (1973) (10.10.1975)
Published in Life sciences (1973) (10.10.1975)
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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
Wallis, G A, Starman, B J, Schwartz, M F, Byers, P H
Published in The Journal of biological chemistry (25.10.1990)
Published in The Journal of biological chemistry (25.10.1990)
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Journal Article
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the α1 chain of type I collagen produces mild osteogenesis imperfecta
COHN, D. H, APONE, S, EYRE, D. R, STARMAN, B. J, ANDREASSEN, P, CHARBONNEAU, H, NICHOLLS, A. C, POPE, F. M, BYERS, P. H
Published in The Journal of biological chemistry (1988)
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Published in The Journal of biological chemistry (1988)
Journal Article
A sensitive radioenzymatic assay for norepinephrine in tissues and plasma
Henry, D P, Starman, B J, Johnson, D G, Williams, R H
Published in Life sciences (1973) (01.02.1975)
Published in Life sciences (1973) (01.02.1975)
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