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

Hyperphenylalaninemia (Online Mendelian Inheritance in Man ®database: 261600) is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase; the most severe form of hyperphenylalaninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine...

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Veröffentlicht in:	The FEBS journal 2009-04, Vol.276 (7), p.2048-2059
Hauptverfasser:	Daniele, Aurora, Scala, Iris, Cardillo, Giuseppe, Pennino, Cinzia, Ungaro, Carla, Sibilio, Michelina, Parenti, Giancarlo, Esposito, Luciana, Zagari, Adriana, Andria, Generoso, Salvatore, Francesco
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence BH4‐responsiveness BH₄-responsiveness Biochemistry Child Child, Preschool Dihydropteridine Reductase - genetics Enzymes Female Gene expression Genetic disorders Genotype Humans hyperphenylalaninemia Italy - epidemiology Male Models, Molecular molecular epidemiology Molecular Sequence Data Mutation PAH mutation functional analysis PAH structural alterations Phenotype Phenylalanine Hydroxylase - chemistry Phenylalanine Hydroxylase - deficiency Phenylalanine Hydroxylase - genetics phenylketonuria Phenylketonurias - genetics Phenylketonurias - metabolism Protein Conformation
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