(Q57785180)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825692%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825692%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

4

1 reference

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26 October 2019

author name string

B L Lam

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825692%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

K Vandenburgh

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825692%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

V C Sheffield

series ordinal

3

1 reference

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26 October 2019

language of work or name

English

0 references

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825692%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Ophthalmology

26 October 2019

published in

1 reference

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26 October 2019

volume

119

1 reference

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26 October 2019

issue

1

1 reference

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26 October 2019

page(s)

65-71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825692%20AND%20SRC:MED&resulttype=core&format=json

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

26 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Rhodopsin Thr58Arg Mutation in a Family with Autosomal Dominant Retinitis Pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Heterozygous 'null allele' mutation in the human peripherin/RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

Standard for clinical electroretinography. International Standardization Committee

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2973815-2

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0002-9394(14)73815-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825692%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference