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

Volumn 62, Issue 6, 1998, Pages 1302-1311

  Thöny, Beat ^a   Neuheiser, Frank ^a   Kierat, Lucja ^a   Blaskovics, Milan ^b   Arn, Pamela H ^c   Ferreira, Patrick ^d   Rebrin, Igor ^e   Ayling, June ^e   Blau, Nenad ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b KAISER PERMANENTE   (United States)

^c NEMOURS CHILDREN S CLINIC   (United States)

^d UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

^e UNIVERSITY OF SOUTH ALABAMA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; MUTANT PROTEIN; NUCLEAR FACTOR I; PHENYLALANINE 4 MONOOXYGENASE; PRIMAPTERIN; PTERIN 4A CARBINOLAMINE DEHYDRATASE; PTERIN DERIVATIVE; TETRAHYDROBIOPTERIN; TRANSCRIPTION COACTIVATOR; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; CHILD; CHROMOSOME 10Q; CLINICAL ARTICLE; DISEASE ASSOCIATION; DNA DETERMINATION; DNA SEQUENCE; ENZYME ACTIVITY; ESCHERICHIA COLI; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERPHENYLALANINEMIA; INFANT; MALE; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; STOP CODON;

ESCHERICHIA COLI;

EID: 0031750012     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301887     Document Type: Article

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