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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Dades bibliogràfiques

Publicat a:	J Clin Invest
Autors principals:	Wilson, J M, Kelley, W N
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Clinical Investigation 1983
Matèries:	Research Article
Accés en línia:	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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