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A Splice Mutation at the Adenine Phosphoribosyltransferase Locus Detected in a German Family

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

Abstract

Approximately 40 cases of type I adenine phosphoribosyltransferase (APRT) deficiency (complete deficiency) have been described. About 20 different mutations have been identified in patients with this disorder (Hidaka et al. 1987, Chen et al. 1991, Sahota et al. 1991). In Germany, five other cases of type I APRT deficiency have been found, two of Turkish and three of unknown ethnic origin. Our group has described a type I Caucasian family from southern Germany (Zöllner and Gresser 1990). The aim of the present study was to investigate the molecular nature of the mutation in this family (Gathof et al. 1991a).

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References

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© 1991 Plenum Press, New York

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Gathof, B.S. et al. (1991). A Splice Mutation at the Adenine Phosphoribosyltransferase Locus Detected in a German Family. 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_18

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  • DOI: https://doi.org/10.1007/978-1-4615-7703-4_18

  • Publisher Name: Springer, New York, NY

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