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)-Reference-Cited by-同舟云学术

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)

Published:1998-06 Issue:6 Volume:62 Page:1302-1311
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference43 articles.

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2. Primapterinuria: biochemical characterization and response to tetrahydrobiopterin;Arn;Am J Hum Genet,1994

3. Mechanism of dehydration by the bifunctional protein, 4a-hydroxy-tetrahydropterin dehydratase/DCoH;Ayling,1997

4. The mechanism of cofactor regeneration during phenylalanine hydroxylation;Bailey,1993

5. Synthesis of 4a-hydroxy-tetrahydropterins and the mechanism of their nonenzymatic dehydration to quinoid dihydropterins;Bailey;J Am Chem Soc,1995

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