Authors: THONY B NEUHEISER F KIERAT L ROLLAND MO GUIBAUD P SCHLUTER T GERMANN R HEIDENREICH RA DURAN M DEKLERK JBC AYLING JE BLAU N

Citation: B. Thony et al., MUTATIONS IN THE PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD) GENECAUSE A BENIGN FORM OF HYPERPHENYLALANINEMIA, Human genetics, 103(2), 1998, pp. 162-167

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

Authors: THONY B NEUHEISER F BLAU N HEIZMANN CW

Citation: B. Thony et al., CHARACTERIZATION OF THE HUMAN PCBD GENE ENCODING THE BIFUNCTIONAL PROTEIN PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DIMERIZATION COFACTOR FOR THE TRANSCRIPTION FACTOR HNF-1-ALPHA/, Biochemical and biophysical research communications, 210(3), 1995, pp. 966-973