(Q28239947)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

polycystic kidney disease

3 November 2019

main subject

1 reference

based on heuristic

inferred from title

polycystic kidney disease 2

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

S Xenophontos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R Constantinides

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

T Hayashi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

T Mochizuki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Somlo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A Pierides

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

949-952

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9175744%20AND%20SRC:MED&resulttype=core&format=json

Autosomal dominant polycystic kidney disease--more than a renal disease

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

Autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.6.949