Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin- deficient hyperphenylalaninemias using high-throughput targeted sequencing

European Journal of Human Genetics

Volumn 22, Issue 4, 2014, Pages 528-534

  Trujillano, Daniel ^a,b,c   Perez, Belén ^e   González, Justo ^a,b,c,d   Tornador, Cristian ^a,b,c,d   Navarrete, Rosa ^e   Escaramis, Georgia ^a,b,c,d   Ossowski, Stephan ^a,b   Armengol, Lluís ^f   Cornejo, Verónica ^g   Desviat, Lourdes R ^e   Ugarte, Magdalena ^e   Estivill, Xavier ^a,b,c,d  

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b UNIVERSITAT POMPEU FABRA   (Spain)

^c HOSPITAL DEL MAR   (Spain)

^d CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^e CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^f QGenomics Laboratory   (Spain)

^g UNIVERSITY OF CHILE   (Chile)

Author keywords

Genetic counseling; Hyperphenylalaninemia; Molecular diagnostics; Phenylketonuria; Targeted resequencing; Tetrahydrobiopterin deficiency

Indexed keywords

GENOMIC DNA; TETRAHYDROBIOPTERIN;

ALLELE; ARTICLE; BIOINFORMATICS; COST; EXON; GCH1 GENE; GENE; GENETIC HETEROGENEITY; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; HUMAN; HYPERPHENYLALANINEMIA; INDEL MUTATION; INTRON; MAJOR CLINICAL STUDY; PAH GENE; PHENYLKETONURIA; PRIORITY JOURNAL; PTS GENE; QDPR GENE; TETRAHYDROBIOPTERIN DEFICIENT HYPERPHENYLALANINEMIA;

BIOPTERIN; COHORT STUDIES; COMPUTATIONAL BIOLOGY; EXONS; GENE LIBRARY; GENE REARRANGEMENT; GENOME, HUMAN; GENOMICS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PHENYLKETONURIAS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84896542286     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.175     Document Type: Article

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