![Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China | Scientific Reports Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China | Scientific Reports](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-018-35373-9/MediaObjects/41598_2018_35373_Fig1_HTML.png)
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China | Scientific Reports
![Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram](https://www.researchgate.net/publication/280447809/figure/fig1/AS:713132687228931@1547035490593/Schematic-representation-of-the-PAH-gene-with-the-location-of-the-33-mutations-detected.jpg)
Schematic representation of the PAH gene with the location of the 33... | Download Scientific Diagram
![Identification of the missense mutation in exon 12 of the human PAH... | Download Scientific Diagram Identification of the missense mutation in exon 12 of the human PAH... | Download Scientific Diagram](https://www.researchgate.net/publication/21150163/figure/fig1/AS:601755826003984@1520481177197/Identification-of-the-missense-mutation-in-exon-12-of-the-human-PAH-gene-by-GAWTS.png)
Identification of the missense mutation in exon 12 of the human PAH... | Download Scientific Diagram
![Hot spot mutation of PAH genes in different ethnicities Bright blue... | Download Scientific Diagram Hot spot mutation of PAH genes in different ethnicities Bright blue... | Download Scientific Diagram](https://www.researchgate.net/publication/334037567/figure/fig1/AS:786407362662402@1564505534739/Hot-spot-mutation-of-PAH-genes-in-different-ethnicities-Bright-blue-represents-the-Uygur.png)
Hot spot mutation of PAH genes in different ethnicities Bright blue... | Download Scientific Diagram
![Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study - eBioMedicine Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study - eBioMedicine](https://www.thelancet.com/cms/asset/d436be95-dedc-43f5-9c18-dc1b8ca2db1b/gr1.jpg)
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study - eBioMedicine
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site | PLOS Genetics
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site | PLOS Genetics
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site | PLOS Genetics
Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies
Phylogenetic Analysis of Phenylalanine Hydroxylase Enzyme and Its Future Aspect in Treatment of Phenylalanine Hydroxylase Enzyme
![A) Structure of the human PAH gene. The horizontal line represents the... | Download Scientific Diagram A) Structure of the human PAH gene. The horizontal line represents the... | Download Scientific Diagram](https://www.researchgate.net/publication/317088761/figure/fig1/AS:498240798892032@1495801271776/A-Structure-of-the-human-PAH-gene-The-horizontal-line-represents-the-full-length-of.png)
A) Structure of the human PAH gene. The horizontal line represents the... | Download Scientific Diagram
![Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria | Experimental & Molecular Medicine Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria | Experimental & Molecular Medicine](https://media.springernature.com/lw685/springer-static/image/art%3A10.3858%2Femm.2008.40.5.533/MediaObjects/12276_2008_Article_BFemm200861_Fig4_HTML.jpg)