Abstract
The Lesch-Nyhan (LN) syndrome of mental retardation, hyperuricemia and self-mutilation is an X-linked disease of man resulting from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) (1). It is known that a number of LN patients exhibit no enzyme activity and no crossreacting antigen (1,2); mutation in these patients may be due to substantial deletions or insertions detectable by Southern analysis. We have undertaken an initial survey of LN patients looking for major gene alterations detectable by Southern analysis; our findings constitute the body of this report.
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References
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A.C. Chinault, J. Brennand, D.S. Konecki, R.L. Nussbaum and C.T. Caskey, Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene, this volume.
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© 1984 Plenum Press, New York
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Nussbaum, R.L., Caskey, C.T., Gilbert, F., Nyhan, W. (1984). Southern Analysis of the Lesch-Nyhan Locus in Man. 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/10.1007/978-1-4684-4553-4_82
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DOI: https://doi.org/10.1007/978-1-4684-4553-4_82
Publisher Name: Springer, Boston, MA
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