Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria

Human Mutation

Volumn 17, Issue 2, 2001, Pages 122-130

  Acosta, A X ^a,c   Silva Jr , W A ^b   Carvalho, T M ^a   Gomes, M ^b   Zago, M A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Associacao de Pais e Amigos dos Excepcionais de Sao Paulo   (Brazil)

^c Fundaao Hemocentro de Ribeirao Preto   (Brazil)

Author keywords

Brazilian population; Mutation analysis; PAH; Phenylalanine hydroxylase; Phenylketonuria; PKU

Indexed keywords

DNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAZIL; CLINICAL TRIAL; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; VARIABLE NUMBER OF TANDEM REPEAT;

BRAZIL; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0035140148     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200102)17:2<122::AID-HUMU4>3.0.CO;2-C     Document Type: Article

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