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Germline and Somatic Mutations Leading to Adenine Phosphoribosyltransferase (APRT) Deficiency

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Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 309B)

Abstract

Both germline and somatic mutations can lead to the deficiency of adenine phosphoribosyltransferase (APRT) in the human body. When the mutations occur in the germline, the mutational alleles are transmitted to the descendants and can cause a disease in the homozygotes. Thus, individuals having, in the germline, the defective APRT alleles in double dose develop 2,8-dihydroxyadenine (DHA) urolithiasis, and renal failure in severe cases (1). Germline APRT deficiency, therefore, is of significant medical interest.

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Reference

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© 1991 Plenum Press, New York

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Hakoda, M., Kamatani, N., Ohtsuka, S., Kashiwazaki, S. (1991). Germline and Somatic Mutations Leading to Adenine Phosphoribosyltransferase (APRT) Deficiency. In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_19

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  • DOI: https://doi.org/10.1007/978-1-4615-7703-4_19

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4615-7705-8

  • Online ISBN: 978-1-4615-7703-4

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