Mutation spectrum of phenylketonuria in Syrian population: Genotype-phenotype correlation

Gene

Volumn 528, Issue 2, 2013, Pages 241-247

  Murad, Hossam ^a   Dabboul, Amir ^a   Moassas, Faten ^a   Alasmar, Diana ^b   Al achkar, Walid ^a  

^a DEPARTMENT OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY   (Syrian Arab Republic)

^b Chlidien's Hospital of Damascus   (Syrian Arab Republic)

Author keywords

Genotype; PAH; Phenotype; Phenylketonuria; PKU; Syria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SPLICE SITE MUTATION; SYRIAN ARAB REPUBLIC;

ARBITRARY VALUE; AV; GENOTYPE; HPA; HYPERPHENYLALANINEMIA; INTERVENING SEQUENCES; IVS; MHP; MILD HYPERPHENYLALANINEMIA; PAH; PHE; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIA; PKU; PRA; PREDICTED RESIDUAL ACTIVITY; SYRIA;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MUTATION, MISSENSE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA SPLICE SITES; SYRIA;

EID: 84883049644     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.07.001     Document Type: Article

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