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bibliographicCitation Inokuchi T, Moriwaki Y, Takahashi S, Tsutsumi Z, Ka T, Yamamoto A, Cheng J, Hashimoto-Tamaoki T, Hada T, Yamamoto T. Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient. Metabolism. 2004 Nov;53(11):1500–2. doi: 10.1016/j.metabol.2004.04.016. PMID: 15536609.
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title Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient
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