Authors: THONY B NEUHEISER F KIERAT L BLASKOVICS M ARN PH FERREIRA P REBRIN I AYLING J BLAU N

Citation: B. Thony et al., 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), American journal of human genetics, 62(6), 1998, pp. 1302-1311