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Structural Consequences of Point Mutations in Nine Human HPRT Variants

  • Beverly L. Davidson
  • Thomas D. Palella
  • Shin Fujimori
  • William N. Kelley
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

Hypoxanthine guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme responsible for the conversion of hypoxanthine and guanine to IMP and GMP, respectively. A deficiency of HPRT results in two distinct clinical disorders, gout (partial HPRT deficiency) or the Lesch-Nyhan syndrome (complete HPRT deficiency).1, 2

Keywords

Random Coil Hypoxanthine Guanine Phosphoribosyltransferase Genetic Computer Group HPRT Deficiency Secondary Structure Propensity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Beverly L. Davidson
    • 1
  • Thomas D. Palella
    • 1
  • Shin Fujimori
    • 1
  • William N. Kelley
    • 1
  1. 1.Departments of Internal Medicine and Biological ChemistryUniversity of MichiganAnn ArborUSA

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