Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

The mutation in a young gouty male with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase has been evaluated. The serum uric acid was 11.8 mg/100 ml, and the urinary uric acid excretion was 1,279 mg/24 h. Erythrocyte hypoxanthine-guanine phosphoribosyltransferase was 34.2 nmol/h...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Fox, I H, Dwosh, I L, Marchant, P J, Lacroix, S, Moore, M R, Omura, S, Wyhofsky, V
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1975
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC301987/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1184748/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI108200
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