Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies

@article{Fujimori1985CommonCO,
  title={Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies},
  author={Shin Fujimori and Ieo Akaoka and Koji Sakamoto and Hisashi Yamanaka and Kusuki Nishioka and Naoyuki Kamatani},
  journal={Human Genetics},
  year={1985},
  volume={71},
  pages={171-176}
}
2,8-Dihydroxyadenine urolithiasis associated with partial deficiencies of adenine phosphoribosyltransferase (APRT) has been found only among Japanese families. All Caucasian patients with the same lithiasis are completely deficient in this enzyme. Partially purified APRT from one of the Japanese families with the lithiasis associated with a partial deficiency of APRT had a reduced affinity for 5-phosphoribosyl-1-pyrophosphate (PRPP). In the present investigations, we have shown that this… CONTINUE READING

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