Molecular correlations in phenylketonuria: Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population

Pediatric Research

Volumn 46, Issue 5, 1999, Pages 594-602

  Enns, Gregory M ^a,c   Martinez, David R ^b   Kuzmin, Alexei I ^b   Koch, Richard ^e   Wakeem, Christina K ^e   Woo, Savio L C ^b,d   Eisensmith, Randy C ^b   Packman, Seymour ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c STANFORD UNIVERSITY   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e Mt Sinai School of Medicine ^*

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; ENZYME ACTIVITY; ETHNIC DIFFERENCE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; INFANT; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UNITED STATES;

EID: 0032745696     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199911000-00017     Document Type: Article

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