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Science 30 July 1976:
Vol. 193. no. 4251, pp. 408 - 411
DOI: 10.1126/science.180603
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Articles

Science, Vol 193, Issue 4251, 408-411
Copyright © 1976 by American Association for the Advancement of Science

articles

Phosphoribosylpyrophosphate synthetase is elevated in fibroblasts from patients with the Lesch-Nyhan syndrome

DW Martin Jr and BA Maler

In subconfluent cultures of fibroblasts from patients with complete or partial deficiencies of hypoxanthine-guanine phosphoribosyltransferase, phosphoribosylpyrophosphate synthetase activity is elevated. The abnormally high catalytic activity of the synthetase appears to account for the overproduction of purines by the cultured mutant cells and presumably for that by the patients.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome.
M. Becker, R. Yen, P Itkin, S. Goss, J. Seegmiller, and B Bakay (1979)
Science 203, 1016-1019
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