1 | PCBD1, PCD
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| Characterization of the human PCBD gene encoding the bifunctional protein pterin-4alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1alpha.
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| Thony B, Neuheiser F, Blau N, Heizmann CW.
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| Biochem Biophys Res Commun 210 : 966-973. 1995
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2 | PCD, PCBD1
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| Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
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| Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD.
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| Am J Hum Genet 53(3):768-74. 1993
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3 | PCD, PCBD1
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| Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.
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| Curtius HC, Kuster T, Matasovic A, Blau N, Dhondt JL.
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| Biochem Biophys Res Commun 153(2):715-21. 1988
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