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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...
Gorde:
| Egile Nagusiak: | , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
1973
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC302489/ https://ncbi.nlm.nih.gov/pubmed/4352580 |
| Etiketak: |
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