Identification of Distinct PRS1 Mutations in Two Patients with X-Linked Phosphoribosylpyrophosphate Synthetase Superactivity

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.3K citations · Full text

Life Sciences, Microbiology, Molecular Biology +10

Human Phosphoribosylpyrophosphate Synthetase

Irving H. Fox, William N. Kelley · Journal of Biological Chemistry · 1971 · 211 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage

Richard A. Gibbs, C. Thomas Caskey · Science · 1987 · 147 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.

E. Zoref, André de Vries, Oded Sperling · Journal of Clinical Investigation · 1975 · 135 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

James M. Wilson, J. Timothy Stout, T D Palella et al. · Journal of Clinical Investigation · 1986 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14