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Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine Synthesis

We have previously described a 14-yr-old boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high...

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Bibliografiske detaljer
Main Authors: Benke, Paul J., Herrick, Norma, Hebert, Annette
Format: Artigo
Sprog:Inglês
Udgivet: 1973
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC333025/
https://ncbi.nlm.nih.gov/pubmed/4353774
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