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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Vydáno v:J Clin Invest
Hlavní autoři: Fox, I H, Dwosh, I L, Marchant, P J, Lacroix, S, Moore, M R, Omura, S, Wyhofsky, V
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1975
Témata:
Research Article
On-line přístup: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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