(Q77628372)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

polycystic kidney disease

7 December 2019

main subject

1 reference

polycystic kidney disease 1

inferred from title

1 reference

Peters DJ

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Ariyurek Y

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

van Dijk M

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Breuning MH

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

publication date

1 December 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

7 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

page(s)

957-960

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

7 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

Novel mutations in the duplicated region of PKD1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200756

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200756

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840199%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference