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endingPage 92
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publicationName American journal of human genetics
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bibliographicCitation Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet. 1994 May;54(5):782–92. PMID: 8178819; PMCID: PMC1918260.
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title Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase
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