Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin

Genetic Testing

Volumn 11, Issue 2, 2007, Pages 174-178

  Wang, Lin ^a   Surendran, Sankar ^b   Michals Matalon, Kimberlee ^c   Bhatia, Gita ^d   Tanskley, Susan ^e   Koch, Richard ^f   Grady, James ^c   Tyring, Stephen K ^g   Stevens, Raymond C ^a   Guttler, Flemming ^h   Matalon, Reuben ^d,i  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF HOUSTON   (United States)

^d UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^e TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^f CHILDREN S HOSPITAL LOS ANGELES   (United States)

^g UNIVERSITY OF TEXAS   (United States)

^h JOHN F KENNEDY INSTITUTE   (Denmark)

ⁱ University of Texas Medical Branch School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; AMINO ACID METABOLISM; ARTICLE; BLOOD LEVEL; CLINICAL ARTICLE; DISEASE SEVERITY; ENZYME ACTIVITY; GENE MUTATION; HUMAN; PATIENT MONITORING; PHENYLKETONURIA; PROTEIN DOMAIN; SCHOOL CHILD; TREATMENT RESPONSE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BIOPTERIN; CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN CONFORMATION; REGULATORY SEQUENCES, NUCLEIC ACID; SEQUENCE DELETION;

EID: 34447284479     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.0520     Document Type: Article

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