THE PURINE REQUIREMENT OF CELLS CULTURED FROM HUMANS AFFECTED WITH THE LESCH-NYHAN SYNDROME (HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY)
Humans with the Lesch-Nyhan syndrome have an X-chromosomal mutant gene that causes severe neurological and developmental abnormalities. The patients are deficient in hypoxanthine-guanine phosphoribosyltransferase, which converts hypoxanthine to inosinic acid, a major precursor of adenine and guanine...
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| Veröffentlicht in: | Proc Natl Acad Sci U S A |
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| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
1969
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC277836/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5256231/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.62.2.536 |
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