Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.

Discordance between clinical phenotype and the level of a mutant enzyme activity may reflect differences between enzyme function in vivo and that measured by the customary enzyme assays on cell extracts. In the present study, the conversion of hypoxanthine to phosphorylated products was measured in...

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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: Holland, M J, DiLorenzo, A M, Dancis, J, Balis, M E, Yü, T F, Cox, R P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 1976
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC436819/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/932196/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI108430
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