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...
Gorde:
| Argitaratua izan da: | J Clin Invest |
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| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
American Society for Clinical Investigation
1975
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| Gaiak: | |
| Sarrera elektronikoa: | 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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