Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemeia

Human Mutation

Volumn 11, Issue 3, 1998, Pages 240-243

  Bosco, Paolo ^a   Calì, Francesco ^a   Meli, Concetta ^c   Mollica, Florindo ^c   Zammarchi, Enrico ^d   Cerone, Roberto ^e   Vanni, Cristina ^e   Palillo, Letizia ^f   Greco, Donatella ^b   Romano, Valentino ^a,g  

^a Laboratorio di Genetica Molecolare   (Italy)

^b Servizio di Pediatria   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f Ospedale dei Bambini G Di Cristina   (Italy)

^g OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

Mutation; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

ARTICLE; CLINICAL ARTICLE; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY LOSS; HUMAN; HYPERPHENYLALANINEMIA; ITALY; MUTATION RATE; PREVALENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; GENETIC HETEROGENEITY; HUMANS; ITALY; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; RNA SPLICING;

EID: 6844250802     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:3<240::AID-HUMU9>3.0.CO;2-L     Document Type: Article

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