Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

We have investigated the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in a patient who presented with the Lesch-Nyhan syndrome. A catalytically incompetent form of HPRT has been isolated from this patient's erythrocytes and lymphoblasts. This enzyme variant, wh...

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Vydáno v:	J Clin Invest
Hlavní autoři:	Wilson, J M, Kelley, W N
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	American Society for Clinical Investigation 1983
Témata:	Research Article
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC436995/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6853716/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI110884
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