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

Author:

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

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

June 1998

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