A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

doi:10.1007/BF00220062

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Article

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Human genetics - 1 Nov 1992

Sculley D G, Dawson P A, Emmerson B T, Gordon R B

Abstract excerpt

Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of g...

Topics

Base Sequence
Humans
Hypoxanthine Phosphoribosyltransferase
Lesch-Nyhan Syndrome
Molecular Sequence Data
Mutation

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