ArticleAmerican journal of human genetics1998
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).
B Thöny et al.PubMed ↗Full text ↗Publisher ↗
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