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Partial deficiency of hypoxanthine-phosphoribosyltransferase:evidence for a structural mutation in a patient with gout

✍ Scribed by W. GUTENSOHN; H. JAHN


Book ID
114726015
Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
447 KB
Volume
9
Category
Article
ISSN
0014-2972

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Partial deficiency of hypoxanthine-guani
✍ F. F. Snyder; A. E. Chudley; P. M. MacLeod; R. J. Carter; E. Fung; J. K. Lowe πŸ“‚ Article πŸ“… 1984 πŸ› Springer 🌐 English βš– 529 KB

A family is described in which four affected males, spanning two generations, have hyperuricemia and gout accompanied by hematuria but are without severe neurologic involvement. The affected males were found to have markedly reduced levels of erythrocytic hypoxanthine-guanine phosphoribosyltransfera