Conclusion
We identified a rare compound heterozygote of minor mutations responsible for the complete deficiency: one of mutations was the W450R reported previously12 and derived from the mother, and the other was a new mutation Q712P which derived from the father.
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References
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Yamada, Y., Goto, H., Ogasawara, N. (2002). Erythrocyte AMP Deaminase Deficiency in Japanese: A Compound Heterozygote Responsible for the Complete Deficiency. In: Zoref-Shani, E., Sperling, O. (eds) Purine and Pyrimidine Metabolism in Man X. Advances in Experimental Medicine and Biology, vol 486. Springer, Boston, MA. https://doi.org/10.1007/0-306-46843-3_13
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