Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

Journal of Human Genetics

Volumn 53, Issue 5, 2008, Pages 407-418

  Bercovich, Dani ^a,b   Elimelech, Arava ^a   Zlotogora, Joel ^c   Korem, Sigal ^a,b   Yardeni, Tal ^a   Gal, Nurit ^d   Goldstein, Nurit ^d   Vilensky, Bela ^d   Segev, Roni ^d   Avraham, Smadar ^d   Loewenthal, Ron ^d,e   Schwartz, Gerard ^d   Anikster, Yair ^d,e  

^a MIGAL GALILEE TECHNOLOGY CENTER   (Israel)

^b TEL HAI COLLEGE   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^d SHEBA MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

Genotype; Mutation analysis; PAH; Phenotype; Phenylalanine hydroxylase gene; Phenylketonuria

Indexed keywords

DNA; PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE SEVERITY; DNA SEQUENCE; EXON; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPHENYLALANINEMIA; ISRAEL; METABOLIC REGULATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PREDICTION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; SEQUENCE DELETION;

EID: 43449107941     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0264-4     Document Type: Article

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