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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Arnold, William J., Meade, Jean C., Kelley, William N.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1972
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC292328/
https://ncbi.nlm.nih.gov/pubmed/4624352
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