Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: Investigation of PKU/MHP patients from Lithuania

Medical Science Monitor

Volumn 9, Issue 3, 2003, Pages

  Kasnauskiene, Jürate ^a   Cimbalistiene, Loreta ^a   Kučinskas, Vaidutis ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

Author keywords

HPA phenotype; Mutations; PAH gene; Phenylketonuria

Indexed keywords

AMINO ACID; DNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE SEVERITY; DNA SEQUENCE; ENZYME DEFICIENCY; GENE LOCUS; GENE MUTATION; HUMAN; HYPERPHENYLALANINEMIA; LITHUANIA; MAJOR CLINICAL STUDY; METABOLIC DISORDER; PHENOTYPE; PHENYLKETONURIA;

FEMALE; GENOTYPE; HUMANS; LITHUANIA; MALE; MUTATION; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 0037355054     PISSN: 12341010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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