The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

European Journal of Pediatrics, Supplement

Volumn 155, Issue 1, 1996, Pages

  Guttler F ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Mutations; Phenylalanine tolerance; Phenylketonuria

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; CHROMOSOME 12; COGNITIVE DEVELOPMENT; CONFERENCE PAPER; DIET THERAPY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENOTYPE; HYPERPHENYLALANINEMIA; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING;

AMINO ACID METABOLISM, INBORN ERRORS; CODON; COGNITION DISORDERS; ENZYME ACTIVATION; GENOTYPE; HOMEOSTASIS; HUMANS; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 0029786950     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (1)

1. Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, DiLella AG, Woo SLC (1987) Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet 76 : 40-46