Abstract
A complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) in man leads to the development of the Lesch-Nyhan syndrome (1) whereas a partial deficiency of the same enzyme leads to a severe form of gout (2). In an attempt to understand the molecular basis of these deficiency states, we have focused our recent studies on the structural and functional properties of HPRT from normal and enzyme-deficient patients.
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References
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© 1984 Springer Science+Business Media New York
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Wilson, J.M., Tarr, G.E., Kelley, W.N. (1984). The Primary Structure and Posttranslational Modification of Human Hypoxanthine-Guanine Phosphoribosyltransferase. In: De Bruyn, C.H.M.M., Simmonds, H.A., Müller, M.M. (eds) Purine Metabolism in Man-IV. Advances in Experimental Medicine and Biology, vol 165. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0390-0_8
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DOI: https://doi.org/10.1007/978-1-4757-0390-0_8
Publisher Name: Springer, Boston, MA
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