ABSTRACT
This enzyme and HPRT (Chapter 65) have been referred to as purine salvage enzymes. Deficiency is readily documented by assay of erythrocyte lysates. The gene has been localized to chromosome 16q24.3 [7-9] and has been cloned and sequenced. A number of mutations have been identified [10,11], including three mutations that account for 96 percent of the mutant alleles found in Japan [12].
