Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
We have investigated the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in a patient who presented with the Lesch-Nyhan syndrome. A catalytically incompetent form of HPRT has been isolated from this patient's erythrocytes and lymphoblasts. This enzyme variant, wh...
Sábháilte in:
| Foilsithe in: | J Clin Invest |
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| Príomhchruthaitheoirí: | , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
American Society for Clinical Investigation
1983
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| Ábhair: | |
| Rochtain ar líne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC436995/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6853716/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI110884 |
| Clibeanna: |
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