Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: The Quebec experience

European Journal of Human Genetics

Volumn 6, Issue 1, 1998, Pages 61-70

  Carter, Kevin C ^a,b   Byck, Susan ^a   Waters, Paula J ^a,b   Richards, Brent ^a,b   Nowacki, Piotr M ^a,b   Laframboise, Rachel ^c   Lambert, Marie ^d   Treacy, Eileen ^a,b   Scriver, Charles R ^a,b  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c LAVAL UNIVERSITY   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Hyperphenylalaninemia; Mutation; Phenylalanine hydroxylase gene (PAH); Phenylketonuria; Population variation

Indexed keywords

DNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CANADA; CHROMOSOME ANALYSIS; DEMOGRAPHY; DNA POLYMORPHISM; EUROPE; GENE LOCUS; GENE MUTATION; GENETIC RECOMBINATION; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; HYPERPHENYLALANINEMIA; IMMIGRATION; MAJOR CLINICAL STUDY; NEWBORN; NORTH AMERICA; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0031933615     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200153     Document Type: Article

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