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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Pubblicato in:	J Clin Invest
Autori principali:	Benke, Paul J., Herrick, Norma, Hebert, Annette
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1973
Soggetti:	Articles
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC333025/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4353774/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI107409
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