Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

FEBS Journal

Volumn 276, Issue 7, 2009, Pages 2048-2059

  Daniele, Aurora ^a,b,c   Scala, Iris ^d   Cardillo, Giuseppe ^a,d   Pennino, Cinzia ^a   Ungaro, Carla ^d   Sibilio, Michelina ^d   Parenti, Giancarlo ^d   Esposito, Luciana ^e   Zagari, Adriana ^a   Andria, Generoso ^d   Salvatore, Francesco ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b IRCCS SDN   (Italy)

^c UNIVERSITY OF MOLISE   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e CNR   (Italy)

Author keywords

BH4 responsiveness; Hyperphenylalaninemia; Molecular epidemiology; PAH mutation functional analysis; PAH structural alterations; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; EXON; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPHENYLALANINEMIA; IN VIVO STUDY; ITALY; MAJOR CLINICAL STUDY; MALE; MOLECULAR EPIDEMIOLOGY; PHENYLKETONURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STABILITY; SCHOOL CHILD;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DIHYDROPTERIDINE REDUCTASE; FEMALE; GENOTYPE; HUMANS; ITALY; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN CONFORMATION;

EID: 62149087350     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2009.06940.x     Document Type: Article

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