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

Author:

Daniele Aurora,Cardillo Giuseppe,Pennino Cinzia,Carbone Maria T.,Scognamiglio Domenico,Esposito Luciana,Correra Antonio,Castaldo Giuseppe,Zagari Adriana,Salvatore Francesco

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference32 articles.

1. C.R. Scriver, S. Kaufman, The hyperphenylalaninemias, in: C.R. Scriver, A.L. Beaudet, S.W. Sly, D. Valle (eds) B. Childs, K.W. Kinzler, B. Vogelstein (assoc. eds), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2001, 8 ed., Ch. 77.

2. The PAH gene, phenylketonuria, and a paradigm shift;Scriver;Hum. Mutat.,2007

3. Monogenic traits are not simple. Lessons from phenylketonuria;Scriver;Trends Genet.,1999

4. Hyperphenylalaninaemia caused by defects in biopterin metabolism;Kaufman;J. Inherit. Metab. Dis.,1985

5. The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency;Leuzzi;J. Inherit. Metab. Dis.,2006

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