Phosphoribosylpyrophosphate synthetase is elevated in fibroblasts from patients with the Lesch-Nyhan syndrome.
作者： D. Martin , B. Maler
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摘要: In subconfluent cultures of fibroblasts from patients with complete or partial deficiencies hypoxanthine-guanine phosphoribosyltransferase, phosphoribosylpyrophosphate synthetase activity is elevated. The abnormally high catalytic the appears to account for overproduction purines by cultured mutant cells and presumably that patients.
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