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Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene, is often complicated by the identification of many novel variants, often with no obvious impac...

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Detalles Bibliográficos
Autores principales:	Pecimonova, Martina, Kluckova, Daniela, Csicsay, Frantisek, Reblova, Kamila, Krahulec, Jan, Procházkova, Dagmar, Skultety, Ludovit, Kadasi, Ludevit, Soltysova, Andrea
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628251/ https://www.ncbi.nlm.nih.gov/pubmed/31208052 http://dx.doi.org/10.3390/genes10060459

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