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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Autores principales: Benke, Paul J., Herrick, Norma, Hebert, Annette
Formato: Artigo
Lenguaje:Inglês
Publicado: 1973
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC333025/
https://ncbi.nlm.nih.gov/pubmed/4353774
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