(Q33594470)

28 July 2017

title

Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family (English)

1 reference

28 July 2017

1 reference

C. Bell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

23 September 2022

C. A. Converse

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

23 September 2022

M. F. Collins

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

23 September 2022

L. Esakowitz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

23 September 2022

K. F. Kelly

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

23 September 2022

N. E. Haites

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

23 September 2022

language of work or name

English

0 references

publication date

1 September 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

https://europepmc.org/articles/PMC1016102?pdf=render

23 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404299

Journal of Medical Genetics

23 September 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

9

1 reference

28 July 2017

page(s)

667-668

1 reference

A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016102

A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016102

Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016102

Role of the intradiscal domain in rhodopsin assembly and function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016102

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016102

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016102

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1404299

12 December 2020

inferred from PubMed ID database lookup

Patterns of DNA methylation are indistinguishable in different individuals over a wide range of human DNA sequences

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1404299

12 December 2020

inferred from PubMed ID database lookup

Assignment of the rhodopsin gene to human chromosome 3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1404299

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.29.9.667

1 reference

release_ertaqqmjnzgfje372oijhnw7yq

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ertaqqmjnzgfje372oijhnw7yq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1016102

1 reference

28 July 2017

1 reference