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Revendicare Liniște Asociat pah gene mutation database circulaţie Chip Melodios

Distributions of the PAH gene mutations in three minority nationality... | Download Table
Distributions of the PAH gene mutations in three minority nationality... | Download Table

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

Table 3 from Phenylketonuria mutations in Northern China. | Semantic Scholar
Table 3 from Phenylketonuria mutations in Northern China. | Semantic Scholar

Occurrence rate of mutations in the PAH gene | Download Table
Occurrence rate of mutations in the PAH gene | Download Table

Phenylalanine Hydroxylase
Phenylalanine Hydroxylase

Frontiers | Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
Frontiers | Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province

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

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

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

Splice-Site mutations in PKU
Splice-Site mutations in PKU

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

Protein network interactions contained the PAH and 10 related genes... | Download Scientific Diagram
Protein network interactions contained the PAH and 10 related genes... | Download Scientific Diagram

Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text
Genetic etiology and clinical challenges of phenylketonuria | Human Genomics | Full Text

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics

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

Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants | Scientific Reports
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants | Scientific Reports

The human PAH gene ( ~ 100 kb on chromosome 12q24.1) showing... | Download Scientific Diagram
The human PAH gene ( ~ 100 kb on chromosome 12q24.1) showing... | Download Scientific Diagram

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population | Journal of Human Genetics

PAH Gene - GeneCards | PH4H Protein | PH4H Antibody
PAH Gene - GeneCards | PH4H Protein | PH4H Antibody

IJMS | Free Full-Text | Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia
IJMS | Free Full-Text | Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study | Pediatric Research
Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study | Pediatric Research

PAH Gene - GeneCards | PH4H Protein | PH4H Antibody
PAH Gene - GeneCards | PH4H Protein | PH4H Antibody

Development of an mRNA replacement therapy for phenylketonuria: Molecular Therapy - Nucleic Acids
Development of an mRNA replacement therapy for phenylketonuria: Molecular Therapy - Nucleic Acids

Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS | ACS Omega
Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS | ACS Omega

Characterization of PAH gene mutations identified in 48 Mexican patients | Download Table
Characterization of PAH gene mutations identified in 48 Mexican patients | Download Table

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants | Metabolic Brain Disease
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants | Metabolic Brain Disease