Associated Papers
Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.
Aslan T et al.
Journal of Biomolecular Structure & Dynamics, 2022
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Duan H et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2019
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
Liang Y et al.
Journal of Human Genetics, 2014
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2007
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