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Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

✍ Scribed by D. T. Keough; R. B. Gordon; J. de Jersey; B. T. Emmerson

Publisher
Springer
Year
1988
Tongue
English
Weight
710 KB
Volume
11
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES

Molecular basis of hypoxanthine-guanine
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families
✍ R.J. Torres; F.A. Mateos; J. Molano; B.S. Gathoff; J.P. O'Neill; R.M. Gundel; L. πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 30 KB

We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described.

Partial deficiency of hypoxanthine-guani
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout
✍ 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