Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene

Human Mutation

Volumn 1, Issue 1, 1992, Pages 13-23

  Eisensmith, Randy C ^a   Woo, Savio L C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Hyperphenylalanemia (HPA); Mutations; Phenylalanine hydroxylase (PAH); Phenylketonuria (PKU); Polymorphisms

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SEQUENCE; CODON; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; GENETIC POLYMORPHISM; GENETICS; HUMAN; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; REVIEW;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; BASE SEQUENCE; CODON; HUMAN; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM (GENETICS); SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027017991     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380010104     Document Type: Article

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