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...
Sábháilte in:
| Foilsithe in: | J Clin Invest |
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| Príomhchruthaitheoirí: | , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
American Society for Clinical Investigation
1972
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| Ábhair: | |
| Rochtain ar líne: | 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 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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