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English
Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE
scientific article published on 01 December 2001
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
title
Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
main subject
polycystic kidney disease
1 reference
based on heuristic
inferred from title
polycystic kidney disease 1
1 reference
based on heuristic
inferred from title
author name string
Peters DJ
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
Ariyurek Y
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
van Dijk M
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
Breuning MH
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
publication date
1 December 2001
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
volume
9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
issue
12
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
page(s)
957-960
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
cites work
Genetic Heterogeneity of Polycystic Kidney Disease in Europe1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutations in the duplicated region of PKD1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EJHG.5200756
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
PubMed publication ID
11840199
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11840199
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
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