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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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Bibliografische gegevens
Hoofdauteurs: Fox, I H, Dwosh, I L, Marchant, P J, Lacroix, S, Moore, M R, Omura, S, Wyhofsky, V
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1975
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC301987/
https://ncbi.nlm.nih.gov/pubmed/1184748
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