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A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype

Autor: Vasan, N S, Kuivaniemi, H, Vogel, B E, Minor, R R, Wootton, J A, Tromp, G, Weksberg, R, Prockop, D J

Fibroblasts from a proband with Ehlers-Danlos syndrome type VII synthesized approximately equal amounts of normal and shortened pro alpha 2(I) chains of type I procollagen. Nuclease S1 probe protection experiments with mRNA demonstrated that the pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::49e4cd71db74ca2398cc24c9477b4d81
https://europepmc.org/articles/PMC1683036/

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Akademický článek

Effects of exercise and polysulfated glycosaminoglycan on repair of articular cartilage defects in the equine carpus.

Autor: Todhunter, R. J., Minor, R. R., Wootton, J. A. M., Krook, L., Burton-Wurster, N., Lust, G.

Publikováno v: Journal of Orthopaedic Research; Nov1993, Vol. 11 Issue 6, p782-795, 14p

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Periodical

Cytotoxic effects of low levels of 3H-, 14C-, and 35S-labeled amino acids.

Autor: Minor, R R

Publikováno v: Journal of Biological Chemistry; September 1982, Vol. 257 Issue: 17 p10400-10413, 14p

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Akademický článek

Morphometric Analysis of Defective Collagen Fibril Growth in Bovine Osteogenesis Imperfecta (Australia Type)a.

Autor: DENHOLM, L. J., HALL, C. E., MINOR, R. R., KROOK, L. P.

Publikováno v: Annals of the New York Academy of Sciences; 1985, Vol. 460 Issue 1, p412-414, 3p

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Akademický článek

Acetylcholine receptor regulation in L5 muscle cells is independent of increases in collagen secretion induced by ascorbic acid

Autor: Liu, E., Wootton, J. A. M., Podleski, T. R., Minor, R. R.

Publikováno v: American Journal of Clinical Nutrition; Dec1991 Supplement, Vol. 54, p1184S, 0p

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Akademický článek

Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta.

Autor: Campbell BG; Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York 14853, USA., Wootton JA, Macleod JN, Minor RR

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2001 Jun; Vol. 16 (6), pp. 1147-53.

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