Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome
Abstract The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyl-transferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured f...
محفوظ في:
المؤلفون الرئيسيون: | William N. Kelley, Jean C. Meade |
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التنسيق: | Artigo |
اللغة: | الإنجليزية |
منشور في: |
1971
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الوصول للمادة أونلاين: | https://doi.org/10.1016/s0021-9258(18)62275-6 |
الوسوم: |
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مواد مشابهة
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Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome
حسب: Arnold, William J., وآخرون
منشور في: (1972) -
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome
حسب: William J. Arnold, وآخرون
منشور في: (1972) -
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
حسب: Wilson, J M, وآخرون
منشور في: (1983) -
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
حسب: Fujimori, S, وآخرون
منشور في: (1989) -
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
حسب: Kim, K. J., وآخرون
منشور في: (1997)