(Q72176911)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

al-Maghtheh M

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Inglehearn C

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Lunt P

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Jay M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Bird A

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Bhattacharya S

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

3

1 reference

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24 October 2019

issue

4

1 reference

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24 October 2019

page(s)

409-410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

24 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Rhodopsin and phototransduction: a model system for G protein-linked receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030417

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8081400%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference