Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and growth retardation. Biochemically, there is a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in affected individuals. We have examined erythrocyt...

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Vydáno v:	J Clin Invest
Hlavní autoři:	Arnold, William J., Meade, Jean C., Kelley, William N.
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	American Society for Clinical Investigation 1972
Témata:	Articles
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC292328/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4624352/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI106982
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