(Q70587638)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

main subject

hyperphenylalaninemia

1 reference

1 reference

E Svensson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

U von Döbeln

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

R C Eisensmith

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

L Hagenfeldt

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

S L Woo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

publication date

1 February 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

12 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

volume

152

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

page(s)

132-139

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf02072490

12 October 2019

exact match

0 references

cites work

Phenylketonuria missense mutations in the Mediterranean

1 reference

12 December 2020

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

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

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing 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

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

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

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

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

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of 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

Gene transfer and expression of human phenylalanine hydroxylase

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

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

Identifiers

DOI

10.1007/BF02072490

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444221%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference