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English
Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus
scientific article published on 01 January 1994
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
title
Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
main subject
Poland
1 reference
based on heuristic
inferred from title
author name string
Zygulska M
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Eigel A
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Pietrzyk JJ
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Horst J
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
publication date
1 January 1994
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
297-299
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
cites work
Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040412
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenylketonuria mutation in southern Europeans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of PKU haplotypes in the population of southern Poland
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040412
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380040412
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed publication ID
7866411
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7866411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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