Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency

Gene

Volumn 515, Issue 1, 2013, Pages 117-122

  Karam, Pascale E ^a   Alhamra, Rasha Shahabeddeen ^a   Nemer, Georges ^a   Usta, Julnar ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

Genotype phenotype; Lebanon; Phenylalanine; PKU

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CHILD; CLINICAL ARTICLE; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE POLICY; HOMOZYGOSITY; HUMAN; INFANT; LEBANON; MALE; NEUROLOGIC DISEASE; NEWBORN; NEWBORN SCREENING; NONSENSE MUTATION; PHENOTYPE; PHENYLALANINE 4 MONOOXYGENASE DEFICIENCY; PHENYLKETONURIA; PILOT STUDY; PRESCHOOL CHILD; PRIORITY JOURNAL; RACE DIFFERENCE; RELIGION; SCHOOL CHILD;

ALLELES; CHILD, PRESCHOOL; CONSANGUINITY; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LEBANON; MALE; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PILOT PROJECTS; POLYMORPHISM, GENETIC;

EID: 84872271047     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.11.018     Document Type: Article

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