Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

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 (<i>PAH</i>) gene, is often complicated by the identification of many novel variants, often wi...

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Bibliographic Details
Main Authors: Martina Pecimonova, Daniela Kluckova, Frantisek Csicsay, Kamila Reblova, Jan Krahulec, Dagmar Procházkova, Ludovit Skultety, Ludevit Kadasi, Andrea Soltysova
Format: Article
Language:English
Published: MDPI AG 2019-06-01
Series:Genes
Subjects:
phenylalanine hydroxylase
phenylketonuria
BH4
functional studies
missense variants
Online Access:https://www.mdpi.com/2073-4425/10/6/459

Internet

https://www.mdpi.com/2073-4425/10/6/459

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