Marfan syndrome: Absence of type I or III collagen structural defects in 25 patients
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799689
Reference21 articles.
1. Bateman, J. F., Mascara, T., Chan, D. and Cole, W. G. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.Biochem. J. 217 (1984) 103–115
2. Bateman, J. F., Chan, D., Mascara, T., Rogers, J. G. and Cole, W. G. Collagen defects in lethal perinatal osteogenesis imperfecta.Biochem. J. 240 (1986) 699–708
3. Bateman, J. F., Chan, D., Walker, I., Rogers, J. G. and Cole, W. G. Lethal osteogenesis imperfecta due to a substitution of arginine for glycine at residue 391 of the α1(I) chain of type I collagen.J. Biol. Chem. 262 (1987) 7021–7027
4. Byers, P. H., Siegel, R. C., Peterson, K. E., Rowe, D. W., Holbrook, K. A., Smith, L. T., Chang, Y. and Fu, J. C. C. Marfan syndrome: abnormal α2 chain in type I collagen.Proc. Natl. Acad. Sci. USA 78 (1981) 7745–7749
5. Chemke, J., Nisani, R., Fiegl, A., Garty, R., Cooper, M., Barash, Y. and Duskin, D. Homozygosity for autosomal dominant Marfan syndrome.J. Med. Genet. 21 (1984) 173–177
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