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Related Experiment Videos

[Adenine phosphoribosyltransferase(APRT) deficiency]

N Kamatani1

  • 1Institute of Rheumatology, Tokyo Women's Medical College.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|December 1, 1996
PubMed
Summary

Adenine phosphoribosyltransferase (APRT) deficiency causes kidney stones and failure due to 2,8-dihydroxyadenine buildup. Japanese populations show higher prevalence, particularly with a specific genetic variant (APRT*J).

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Area of Science:

  • Genetics
  • Biochemistry
  • Nephrology