(Q70177711)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2044609%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

title

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2044609%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference

Y Okano

1

1 reference

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9 October 2019

R C Eisensmith

2

1 reference

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9 October 2019

M Dasovich

3

1 reference

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9 October 2019

T Wang

4

1 reference

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9 October 2019

F Güttler

5

1 reference

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9 October 2019

S L Woo

6

1 reference

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9 October 2019

publication date

1 March 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2044609%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

9 October 2019

published in

1 reference

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9 October 2019

volume

150

1 reference

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9 October 2019

issue

5

1 reference

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9 October 2019

page(s)

347-352

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01955938

9 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

12 December 2020

Prenatal diagnosis and carrier detection of classic phenylketonuria by gene analysis

1 reference

12 December 2020

Biochemical characterization of recombinant human phenylalanine hydroxylase produced in Escherichia coli.

1 reference

12 December 2020

Expression of a preproinsulin-beta-galactosidase gene fusion in mammalian cells

1 reference

12 December 2020

Electroporation for the efficient transfection of mammalian cells with DNA.

1 reference

12 December 2020

Molecular basis and population genetics of phenylketonuria

1 reference

12 December 2020

In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

1 reference

12 December 2020

Clinical and biochemical observations of patients with atypical phenylketonuria

1 reference

12 December 2020

Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride

1 reference

12 December 2020

Recurrent mutation in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

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

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

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

1 reference

12 December 2020

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

12 December 2020

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

1 reference

12 December 2020

Proteolytic modification of the amino-terminal and carboxyl-terminal regions of rat hepatic phenylalanine hydroxylase

1 reference

12 December 2020

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

1 reference

12 December 2020

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

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

Prenatal diagnosis of classic phenylketonuria by DNA analysis

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

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

Novel PKU mutation on haplotype 2 in French-Canadians

1 reference

12 December 2020

Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01955938

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2044609%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference