Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal

Journal of Medical Genetics

Volumn 35, Issue 4, 1998, Pages 301-304

  Rivera, Isabel ^a   Leandro, Paula ^a   Lichter Konecki, Uta ^b,c   De Almeida, Isabel Tavares ^a   Lechner, Maria Celeste ^a  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c MARSHFIELD CLINIC   (United States)

Author keywords

Haplotypes; Hyperphenylalaninaemia; Mutations; Portuguese

Indexed keywords

DNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; DNA POLYMORPHISM; ENZYME DEFICIENCY; GENE MUTATION; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PHENYLKETONURIA; POPULATION GENETICS; PORTUGAL; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0031979714     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.301     Document Type: Article

References (8)

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