Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in thePCBDGene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)


Beat Thöny,Frank Neuheiser,Lucja Kierat,Milan Blaskovics,Pamela H. Arn,Patrick Ferreira,Igor Rebrin,June Ayling,Nenad Blau


The American Journal of Human Genetics




June 1998

Copyright © 1998, Elsevier

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