Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1782, Issue 6, 2008, Pages 378-384

  Daniele, Aurora ^a,b,c   Cardillo, Giuseppe ^a   Pennino, Cinzia ^a   Carbone, Maria T ^d   Scognamiglio, Domenico ^d   Esposito, Luciana ^e   Correra, Antonio ^d   Castaldo, Giuseppe ^a,b   Zagari, Adriana ^a,b   Salvatore, Francesco ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF MOLISE   (Italy)

^d Ospedale SS Annunziata   (Italy)

^e CNR   (Italy)

Author keywords

Expression studies of PKU mutants; PKU; PKU mutations; PKU mutations functional analysis; Structural analysis

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; ITALY; LOADING TEST; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

BLOTTING, WESTERN; CELL LINE; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MODELS, MOLECULAR; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN STRUCTURE, SECONDARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 43549124527     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2008.01.012     Document Type: Article

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