Associated Papers
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria.
Pampukha V et al.
Genes & Diseases, 2017
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Ho G et al.
Jimd Reports, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.
O'Donnell KA et al.
European Journal of Human Genetics : Ejhg, 2002
Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
Sueoka H et al.
Genetic Testing, 2000
Mutation screening of phenylketonuria in the Far East of Russia.
Sueoka H et al.
Journal of Human Genetics, 1999
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Carter KC et al.
European Journal of Human Genetics : Ejhg, 1998
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.
Zschocke J et al.
American Journal of Human Genetics, 1995
Mutation analysis of the phenylalanine hydroxylase gene using heteroduplex analysis with synthetic DNA constructs.
Tyfield LA et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.
Rozen R et al.
American Journal of Human Genetics, 1994
Origins of hyperphenylalaninemia in Israel.
Kleiman S et al.
European Journal of Human Genetics : Ejhg, 1994
Genetic background of clinical homogeneity of phenylketonuria in Poland.
Jaruzelska J et al.
Journal of Medical Genetics, 1993
[Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
Wang M
Zhonghua Yi Xue Za Zhi, 1992
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Eisensmith RC et al.
Human Mutation, 1992
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.
Kleiman S et al.
Human Mutation, 1992
Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?
Dworniczak B et al.
Human Mutation, 1992
Phenylketonuria and the phenylalanine hydroxylase gene.
Eisensmith RC et al.
Molecular Biology & Medicine, 1991