(Q70821102)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

exudative vitreoretinopathy

1 reference

Fuchs S

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Kellner U

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Wedemann H

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Gal A

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

257-259

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

Isolation of a candidate gene for Norrie disease by positional cloning

14 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

Mutations in the candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

Isolation and characterization of a candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

Primary Retinal Dysplasia Transmitted as X-Chromosome-Linked Recessive Disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060312

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535448%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference