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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Activity in Normal, Mutant, and Heterozygote-Cultured Human Skin Fibroblasts

Cultured skin fibroblasts from patients deficient for the enzyme hypoxanthine-guanine phosphoribosyltransferase (PRT) activity show very low but nevertheless significant levels of apparent PRT enzyme despite absence of detectable activity (<0.004% of normal) in erythrocytes of the same patients....

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Fujimoto, Wilfred Y., Seegmiller, J. Edwin
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1970
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC282946/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5267139/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.65.3.577
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