(Q67481798)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

main subject

hyperphenylalaninemia

1 reference

von Döbeln U

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

E. Svensson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301200

10 September 2022

R. C. Eisensmith

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301200

10 September 2022

B. Dworniczak

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301200

10 September 2022

U. von Döbeln

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301200

10 September 2022

L. Hagenfeldt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301200

10 September 2022

J. Horst

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301200

10 September 2022

S. L. Woo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301200

10 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301200

10 September 2022

publication date

1 January 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

page(s)

129-137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

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

13 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

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.1380010208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Homology between phenylalanine and tyrosine hydroxylases reveals common structural and functional domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Gene transfer and expression of human phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

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.1380010208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Phenylketonuria missense mutations in the Mediterranean

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Mendelian hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Molecular basis and population genetics of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010208

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301200%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference