Characterization of EcoRI mutation in fucosidosis patients: A stop codon in the open reading frame

Author:

Kretz Keith A.,Darby John K.,Willems Patrick J.,O'Brien John S.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Reference13 articles.

1. Alhadeff, J.A., O'Brien, J.S. (1977). Fucosidosis. Practical Enzymology of the Sphingolipidoses. R.H. Glew and S.P. Peters (eds). Alan R. Liss, Inc., New York, pp 247–281

2. Baserga, S.J., Benz, E.J., Jr. (1988). Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc. Natl. Acad. Sci. U.S.A. 85:2056–2060

3. Darby, J.K., Willems, P.J., Nakashima, P., Henke, J., Ferrell, R.E., Johnsen, J., Wijsman, E.M., Gerhard, D., Dracopoli, N.C., Housman, D., Fowler, M.L., Shows, T.B., O'Brien, J.S., Cavalli-Sforza, L.L. (1988). Restriction analysis of the structural α-l-fucosidase gene and its linkage to fucosidosis. Am. J. Hum. Genet. 43:749–755

4. de Wet, J.R., Fukushima, H., Dewji, N.N., Wilcox, E., O'Brien, J.S., Helinski, D.R. (1984). Chromogenic immunodetection of human serum albumin and α-l-fucosidase clones in a human hepatoma cDNA expression library. DNA 3:437–447

5. Durand, P., Gatti, R., Borrone, C. (1982). Fucosidosis. Genetic Errors of Glycoprotein Metabolism, P. Durand and J.S. O'Brien (eds.), Springer-Verlag, New York, pp 49–87

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