Rhodopsin Thr58Arg Mutation in a Family with Autosomal Dominant Retinitis Pigmentosa (Q67829533)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

title

Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

Rhodopsin Thr58Arg Mutation in a Family with Autosomal Dominant Retinitis Pigmentosa (English)

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

20 November 2022

1 reference

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

20 November 2022

author name string

J. E. Richards

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1775313

20 November 2022

C. Y. Kuo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1775313

20 November 2022

M. Boehnke

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1775313

20 November 2022

P. A. Sieving

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1775313

20 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1775313

20 November 2022

publication date

1 December 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

18 September 2019

https://api.elsevier.com/content/article/PII:S0161642091320475?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

https://api.elsevier.com/content/article/PII:S0161642091320475?httpAccept=text/plain

20 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

20 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

volume

98

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

page(s)

1797-1805

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

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

18 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Preparative and analytical purification of DNA from agarose

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Prevalence of retinitis pigmentosa in Maine

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Standard for clinical electroretinography. International Standardization Committee

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Autosomal dominant retinitis pigmentosa. A method of classification

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Rod and cone activity in patients with dominantly inherited retinitis pigmentosa: comparisons between psychophysical and electroretinographic measurements

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Retinitis pigmentosa and allied diseases: applications of electroretinographic testing

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2891%2932047-5

7 January 2021

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

2

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

Assignment of the rhodopsin gene to human chromosome 3

20 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

20 November 2022

10

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

Sequential tests for the detection of linkage

20 November 2022

15

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

Rod sensitivity relative to cone sensitivity in retinitis pigmentosa

20 November 2022

19

1 reference

https://api.crossref.org/works/10.1016/S0161-6420(91)32047-5

20 November 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1775313%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

1 reference