(Q44976473)

7 December 2017

title

PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease (English)

1 reference

autosomal dominant polycystic kidney disease

7 December 2017

0 references

0 references

autosomal dominant polycystic kidney

1 reference

Alexander M Gout

1

1 reference

7 December 2017

Neilson C Martin

series ordinal

2

1 reference

7 December 2017

Alastair F Brown

series ordinal

3

1 reference

7 December 2017

David Ravine

series ordinal

4

1 reference

7 December 2017

publication date

1 July 2007

1 reference

7 December 2017

1 reference

7 December 2017

volume

28

1 reference

7 December 2017

issue

7

1 reference

7 December 2017

page(s)

654-659

1 reference

Proof of "disease causing" mutation

7 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Mutations of the human polycystic kidney disease 2 (PKD2) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

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/10.1002%2FHUMU.20474

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/10.1002%2FHUMU.20474

7 January 2021

The human gene mutation database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

A complete mutation screen of the ADPKD genes by DHPLC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Artemis: sequence visualization and annotation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20474

7 January 2021

Identifiers

DOI

10.1002/HUMU.20474

1 reference

7 December 2017

1 reference