Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness

Gene

Volumn 526, Issue 2, 2013, Pages 347-355

  Polak, Emil ^a   Ficek, Andrej ^a   Radvanszky, Jan ^b   Soltysova, Andrea ^a,b   Urge, Otto ^c   Cmelova, Eleonora ^c   Kantarska, Dana ^d   Kadasi, Ludevit ^a,b  

^a Faculty of Natural Sciences   (Slovakia)

^b INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^c UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

^d FD Roosevelt Faculty Hospital   (Slovakia)

Author keywords

BH4 responsiveness; Mutation analysis; PAH; Phenylketonuria; PKU

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ARTICLE; DNA ISOLATION; DNA SPLICING; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INTRON; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENYLKETONURIA; PRIORITY JOURNAL; PROMOTER REGION; SLOVAKIA;

ANNEALING TEMPERATURE; BASE PAIRS; BH4; BH4-RESPONSIVENESS; BIOPKUDB; BP; CLASSIC PHENYLKETONURIA; CONC.; CONCENTRATION; CPKU; DEOXYRIBONUCLEOSIDE TRIPHOSPHATE; DNTP; EDTA; ETHYLENEDIAMINETETRAACETIC ACID; GENE ENCODING PHENYLALANINE HYDROXYLASE; HIGH RESOLUTION MELTING; HPA; HRM; HUMAN VARIATION; HUMVAR; HYPERPHENYLALANINEMIA; INTERNATIONAL DATABASE OF PATIENTS AND GENOTYPES CAUSING HPA/PKU INCLUDING BH4-RESPONSIVE PHENOTYPE; INTERNATIONAL DATABASE OF VARIATIONS IN PHENYLALANINE HYDROXYLASE GENE; KB; KILOBASES; MC; MELTING CURVE; MESSENGER RNA; MHP; MILD HYPERPHENYLALANINEMIA; MILD PHENYLKETONURIA; MLPA; MPKU; MRNA; MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION; MUTATION ANALYSIS; PAH; PAH LOCUS KNOWLEDGEBASE; PAHDB; PAHVDB; PCR; PHE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIA; PKU; POLYMERASE CHAIN REACTION; PRA; PREDICTED RESIDUAL ACTIVITY; RESTRICTION-FRAGMENT LENGTH POLYMORPHISM; RFLP; TA; TAQ; TETRAHYDROBIOPTERIN (6RL-ERYTHRO-5,6,7,8-TETRAHYDROBIOPTERIN); THERMUS AQUATICUS; TYR; TYROSINE; U; UNIT;

ALLELES; BASE SEQUENCE; BIOPTERIN; CHROMOSOME BREAKPOINTS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE DELETION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MUTATION; MUTATION RATE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROGNOSIS; SLOVAKIA; TREATMENT OUTCOME;

EID: 84880750561     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.05.057     Document Type: Article

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