(Q36159540)

12 August 2017

What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases (English)

1 reference

12 August 2017

1

1 reference

PMC publication ID

4604716

12 August 2017

language of work or name

English

0 references

publication date

19 February 2013

1 reference

Investigative Ophthalmology Visual Science

12 August 2017

1 reference

12 August 2017

54

1 reference

12 August 2017

2

1 reference

12 August 2017

1417

1 reference

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604716

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604716

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604716

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604716

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604716

The human retinitis pigmentosa GTPase regulator gene variant database

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604716

23 September 2018

Identifiers

DOI

10.1167/IOVS.13-11750

1 reference

12 August 2017

1 reference

PMC publication ID

4604716

12 August 2017

PubMed publication ID

23423174

1 reference

PMC publication ID

4604716