ELECTROPHORETIC VARIATION IN PARTIAL DEFICIENCY OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE
- 1 January 1977
- journal article
- research article
- Vol. 90 (1), 25-29
Abstract
Mutant hypoxanthine-guanine phosphoribosyltransferase from 4 patients with a partial deficiency of this enzyme was studied by isoelectric focusing. The isoenzymes found in these hemolysates were different from the normal isoenzymes and were different from each other. Electrophoretic variation may be a common occurrence in this disorder supporting the existence of structural gene mutations with genetic heterogeneity in this X-linked hyperuricemia.This publication has 4 references indexed in Scilit:
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