Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

We have developed a method for the direct analysis of a hypoxanthine-guanine phosphoribosyltransferase (HPRT) allele associated with a deficiency of enzyme activity and an early onset of gout. The functionally abnormal enzyme coded for by this mutant allele (HPRTToronto) differs from the normal enzy...

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Bibliographic Details
Main Authors: Wilson, J M, Frossard, P, Nussbaum, R L, Caskey, C T, Kelley, W N
Format: Artigo
Language:Inglês
Published: 1983
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1129241/
https://ncbi.nlm.nih.gov/pubmed/6309910
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