Mutation analysis in hyperphenylalaninemia patients from South Italy.

Trunzo, Roberta; Santacroce, Rosa; D'Andrea, Giovanna; Longo, Vittoria; De Girolamo, Giuseppe; Dimatteo, Claudia; Leccese, Angelica; Lillo, Vincenza; Papadia, Francesco; Margaglione, Maurizio

Trunzo, Roberta; Santacroce, Rosa; D'Andrea, Giovanna; Longo, Vittoria; De Girolamo, Giuseppe; Dimatteo, Claudia; Leccese, Angelica; Lillo, Vincenza; Papadia, Francesco; Margaglione, Maurizio.

Affiliation

Trunzo R; Genetica Medica, Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Foggia, Italy. Electronic address: r.trunzo@unifg.it.

Clin Biochem ; 46(18): 1896-8, 2013 Dec.

Article in En | MEDLINE | ID: mdl-23792259

Subject(s)

Mutation; Phenylalanine Hydroxylase/genetics; Phenylketonurias/etiology; DNA Mutational Analysis; Genotype; Humans; Infant, Newborn; Italy; Neonatal Screening; Phenotype; Phenylketonurias/genetics

Key words

Gene phenylalanine hydroxylase (PAH); Hyperphenylalaninemia; Mutation analysis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine Hydroxylase / Phenylketonurias / Mutation Limits: Humans / Newborn Country/Region as subject: Europa Language: En Journal: Clin Biochem Year: 2013 Type: Article

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