The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations (Q34540558)

2 August 2017

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title

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations (English)

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2 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679029

27 October 2022

allele

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679029

27 October 2022

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27 October 2022

author name string

Lichter-Konecki U

2

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2 August 2017

DavidS. Konecki

1

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Uta Lichter-Konecki

2

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D. S. Konecki

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679029

27 October 2022

U. Lichter-Konecki

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679029

27 October 2022

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1679029

27 October 2022

publication date

1 August 1991

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full work available at URL

2 August 2017

August 1991

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http://link.springer.com/content/pdf/10.1007/BF00197152.pdf

file format

Portable Document Format

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http://link.springer.com/article/10.1007/BF00197152/fulltext.html

27 October 2022

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http://link.springer.com/content/pdf/10.1007/BF00197152

27 October 2022

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27 October 2022

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2 August 2017

87

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2 August 2017

4

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2 August 2017

377-388

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https://scigraph.springernature.com/pub.10.1007/bf00197152

2 August 2017

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cites work

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

1 reference

12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

1 reference

12 December 2020

Molecular biology of phenylketonuria

1 reference

12 December 2020

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

1 reference

12 December 2020

Evidence for multiple origins of the beta E-globin gene in Southeast Asia

1 reference

12 December 2020

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

1 reference

12 December 2020

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

1 reference

12 December 2020

The heterozygote advantage in phenylketonuria

1 reference

12 December 2020

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

1 reference

12 December 2020

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

1 reference

12 December 2020

PAH 399 GTA (Val)----GTT(Val), a new silent mutation found in the Chinese

1 reference

12 December 2020

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria

1 reference

12 December 2020

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1 reference

12 December 2020

Outcome of the patients detected by newborn screening in Japan.

1 reference

12 December 2020

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

1 reference

12 December 2020

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

1 reference

12 December 2020

Clinical consequences of heterozygosity for autosomal-recessive diseases

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria

1 reference

12 December 2020

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic

1 reference

12 December 2020

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

1 reference

12 December 2020

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

1 reference

12 December 2020

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

1 reference

12 December 2020

Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.

1 reference

12 December 2020

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

12 December 2020

Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study

1 reference

12 December 2020

Molecular basis and population genetics of phenylketonuria

1 reference

12 December 2020

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

1 reference

12 December 2020

Recurrent mutation in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany

1 reference

12 December 2020

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

1 reference

12 December 2020

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

1 reference

12 December 2020

Haplotype distribution and molecular defects of PKU in Italy

1 reference

12 December 2020

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

1 reference

12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

1 reference

12 December 2020

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

1 reference

12 December 2020

A study of the cause of the high incidence of phenylketonuria in Ireland and west Scotland

1 reference

12 December 2020

Molecular genetics of phenylketonuria and its implications

1 reference

12 December 2020

Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic.

1 reference

12 December 2020

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

1 reference

12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

12 December 2020

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1 reference

12 December 2020

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

1 reference

12 December 2020

Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians

1 reference

12 December 2020

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

12 December 2020

Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus

1 reference

12 December 2020

The polymerase chain reaction: an improved method for the analysis of nucleic acids

1 reference

12 December 2020

The birthplaces of parents and grandparents of a series of patients with phenylketonuria in in south-east England

1 reference

12 December 2020

Phenylalanine hydroxylation cofactor in phenylketonuria

1 reference

12 December 2020

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes

1 reference

12 December 2020

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

The enzymatic conversion of phenylalanine to tyrosine

1 reference

12 December 2020

Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese

1 reference

12 December 2020

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1 reference

12 December 2020

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

1 reference

12 December 2020

Phenylketonuria. Population genetics of a disease

1 reference

12 December 2020

Studies on phenylpyruvic oligophrenia; the position of the metabolic error

1 reference

12 December 2020

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Gene transfer and expression of human phenylalanine hydroxylase

1 reference

12 December 2020

A single origin of phenylketonuria in Yemenite Jews

1 reference

12 December 2020

Phenylketonuria: 50 years since Følling's discovery and still expanding our clinical and biochemical knowledge

1 reference

12 December 2020

Ethnic distribution of phenylketonuria in the north German population

1 reference

12 December 2020

Novel PKU mutation on haplotype 2 in French-Canadians

1 reference

12 December 2020

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

1 reference

12 December 2020

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

1 reference

12 December 2020

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

1 reference

12 December 2020

Anthropological significance of phenylketonuria and the importance of heterozygote advantage

1 reference

12 December 2020

Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome

1 reference

12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

12 December 2020

The CpG dinucleotide and human genetic disease

1 reference

12 December 2020

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

12 December 2020

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations

1 reference

12 December 2020

Molecular analysis of PKU haplotypes in the population of southern Poland

1 reference

12 December 2020

Identifiers

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