Disparate Enzyme Activity in Erythrocytes and Leukocytes. A VARIANT OF HYPOXANTHINE PHOSPHORIBOSYL-TRANSFERASE DEFICIENCY WITH AN UNSTABLE ENZYME
A family is reported in which each of two sisters has a son with no detectable hypoxanthine phosphoribosyltransferase (HPRT) (EC 2. 4. 2. 8) in his erythrocytes, a finding considered pathognomonic of Lesch-Nyhan disease. However, neither has the stigmata of the disease. One boy is neurologically nor...
محفوظ في:
| الحاوية / القاعدة: | J Clin Invest |
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| المؤلفون الرئيسيون: | , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
American Society for Clinical Investigation
1973
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC302489/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4352580/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI107391 |
| الوسوم: |
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