(Q67482105)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1

Eiken HG

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301947

10 September 2022

author name string

Knappskog PM

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Apold J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Skjelkvåle L

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Boman H

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

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=1301947

10 September 2022

publication date

1 January 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%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:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

page(s)

388-391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

Increased band sharing in DNA fingerprints of an inbred human population

13 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010507

7 January 2021

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010507

7 January 2021

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010507

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.1380010507

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010507

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301947%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference