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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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Bibliografiska uppgifter
Huvudupphovsmän: Arnold, William J., Meade, Jean C., Kelley, William N.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1972
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC292328/
https://ncbi.nlm.nih.gov/pubmed/4624352
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