The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
The genetic and functional basis of phosphoribosylpyrophosphate synthetase (PRS) superactivity associated with purine nucleotide inhibitor-resistance was studied in six families with this X chromosome-linked purine metabolic and neurodevelopmental disorder. Cloning and sequencing of PRS1 and PRS2 cD...
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| 發表在: | J Clin Invest |
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| Principais autores: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Clinical Investigation
1995
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC185862/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7593598/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118267 |
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