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PAH gene

Known as: PH, PAH, phenylalanine 4-monooxygenase 
National Institutes of Health

Related topics

Related topics

2 relations
Classical phenylketonuriaPhenylalanine Hydroxylase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Highly Cited
2001
Highly Cited
2001
Biomarkers of polycyclic aromatic hydrocarbon-DNA damage and cigarette smoke exposures in paired maternal and newborn blood samples as a measure of differential susceptibility.
Human and experimental evidence indicates that the developing fetus may be more susceptible than the adult to the effects of… 
Highly Cited
2001
Highly Cited
2001
Congenital Heart Disease in Maternal Phenylketonuria: Report from the Maternal PKU Collaborative Study
The frequency and types of congenital heart disease in offspring from pregnancies in women with hyperphenylalaninemia were… 
Review
1994
Review
1994
'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene.
Attempts to isolate human genes and characterize molecular defects underlying inherited diseases are in rapid progress. The… 
Highly Cited
1993
Highly Cited
1993
Hepatic gene therapy: adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes.
We have combined a receptor-mediated DNA delivery system with the endosomal lysis ability of adenovirus and shown that DNA can be… 
Highly Cited
1989
Highly Cited
1989
CpG dinucleotides are mutation hot spots in phenylketonuria.
Highly Cited
1986
Highly Cited
1986
Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.
Human phenylalanine hydroxylase is a liver-specific enzyme that catalyzes the conversion of phenylalanine to tyrosine. Absence of… 
Highly Cited
1985
Highly Cited
1985
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.
A full-length human phenylalanine hydroxylase complementary DNA (cDNA) clone was isolated from a human liver cDNA library, and… 
Highly Cited
1983
Highly Cited
1983
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria
The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase… 
Highly Cited
1982
Highly Cited
1982
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.
The mRNA for phenylalanine hydroxylase (phenylalanine 4-monooxygenase, EC 1.14.16.1) has been purified from total rat liver mRNAs… 
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