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)

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

• Book ID: 117852435
• Publisher: American Society of Human Genetics
• Year: 1998
• Tongue: English
• Weight: 588 KB
• Volume: 62
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/301887