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- W51006023 abstract "The incidence of 2, 8-dihydroxyadenine urolithiasis or adenine phosphoribosyltransferase (APRT) deficiency is apparently higher among Japanese than other ethnic groups (1). Thus, our laboratory alone has so far diagnosed more than 100 subjects with homozygous APRT deficiency as well as many heterozygotes. The incidence of heterozygotes among the Japanese has been estimated to be 0.47-1.2% (2, 3). In the present study, we attempted to search for the mechanisms of the high incidence of APRT deficiency among this ethnic group by analyzing the data from molecular studies using samples from these patients." @default.
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- W51006023 date "1995-01-01" @default.
- W51006023 modified "2023-09-23" @default.
- W51006023 title "Search for the Mechanisms of High Incidence of APRT Deficiency Among Japanese" @default.
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- W51006023 doi "https://doi.org/10.1007/978-1-4615-2584-4_70" @default.
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