(Q34231341)

English

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

scientific article published on January 1, 1992

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene (English)

1 reference

Europe PubMed Central

31 July 2017

phenylketonuria

1 reference

based on heuristic

inferred from title

genetic polymorphism

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301187

10 September 2022

author name string

R. C. Eisensmith

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301187

10 September 2022

S. L. Woo

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301187

10 September 2022

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301187

10 September 2022

publication date

1 January 1992

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1

1 reference

Europe PubMed Central

31 July 2017

13-23

1 reference

Europe PubMed Central

31 July 2017

1

1 reference

Europe PubMed Central

31 July 2017

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

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A single origin of phenylketonuria in Yemenite Jews

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

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Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

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based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

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Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Full-length cDNA for rabbit tryptophan hydroxylase: functional domains and evolution of aromatic amino acid hydroxylases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Application of a new DNA sequence polymorphism as a genetic marker in prenatal diagnosis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of cofactor binding sites with monoclonal anti-idiotype antibodies: phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenylketonuria mutation in southern Europeans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Two distinct mutations at a single BamHI site in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence and expression of the Drosophila phenylalanine hydroxylase mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenylketonuria missense mutations in the Mediterranean

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Mendelian hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Founder effect of a prevalent phenylketonuria mutation in the Oriental population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of PKU haplotypes in the population of southern Poland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010104

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380010104

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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