The human PAH gene ( ~ 100 kb on chromosome 12q24.1) showing... | Download Scientific Diagram
Phenylalanine Hydroxylase
Frontiers | Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants | Metabolic Brain Disease
A systematic review of genetic mutations in pulmonary arterial hypertension
Genotypes for mutations and polymorphisms of the PAH gene in 25 Kurdish... | Download Scientific Diagram
Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text
Genes | Free Full-Text | Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants | Scientific Reports
Identification of the missense mutation in exon 12 of the human PAH... | Download Scientific Diagram
Identification and analysis of two novel PAH missense mutations... | Download Scientific Diagram
PAH Gene - GeneCards | PH4H Protein | PH4H Antibody
Distributions of the PAH gene mutations in three minority nationality... | Download Table
Frontiers | Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram
Development of an mRNA replacement therapy for phenylketonuria: Molecular Therapy - Nucleic Acids
Genes | Free Full-Text | An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations
Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS | ACS Omega
![PDF] Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/6aa8e4d29f51abd58d78b404e6fb7ab2a5057aaf/2-Figure1-1.png "PDF] Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report | Semantic Scholar")
PDF] Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report | Semantic Scholar
IJMS | Free Full-Text | Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia
PAH Gene - GeneCards | PH4H Protein | PH4H Antibody
Splice-Site mutations in PKU
Occurrence rate of mutations in the PAH gene | Download Table
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics
The pathogenicity classification of PAH gene variants in the Iranian population - ScienceDirect
