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Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

We have investigated the molecular basis for a deficiency of the enzyme hypoxanthine (guanine) phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) in a patient with a severe form of gout. We reported in previous studies the isolation of a unique structural varia...

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Bibliographic Details
Published in:Proc Natl Acad Sci U S A
Main Authors: Wilson, J M, Tarr, G E, Kelley, W N
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 1983
Subjects:
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC393482/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6572373/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.80.3.870
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