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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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | angličtina |
| Vydáno: |
1972
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| On-line přístup: | https://doi.org/10.1172/jci106982 http://www.jci.org/articles/view/106982/files/pdf |
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