Associated Papers
Computational Study of Pathogenic Variants in Phenylalanine-4-hydroxylase (PAH): Insights into Structure, Dynamics, and BH4 Binding.
Islam SM et al.
Acs Omega, 2025
High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.
Zhu J et al.
Prenatal Diagnosis, 2024
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
Kim SW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
The molecular basis of phenylketonuria in Koreans.
Lee DH et al.
Journal of Human Genetics, 2004
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
Select a paper to view details