(Q67482922)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1303237%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

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

1 reference

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13 September 2019

1 reference

2

Cowley GS

1 reference

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13 September 2019

author name string

Rosenfeld PJ

1

1 reference

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13 September 2019

McGee TL

3

1 reference

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13 September 2019

Sandberg MA

4

1 reference

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13 September 2019

Berson EL

5

1 reference

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13 September 2019

Dryja TP

6

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13 September 2019

publication date

1 June 1992

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13 September 2019

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13 September 2019

volume

1

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13 September 2019

page(s)

209-213

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13 September 2019

issue

3

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https://scigraph.springernature.com/pub.10.1038/ng0692-209

13 September 2019

exact match

0 references

cites work

Prevalence of retinitis pigmentosa in Maine

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa

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7 January 2021

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

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7 January 2021

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin

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7 January 2021

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

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7 January 2021

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

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Insulin resistance--mechanisms, syndromes, and implications

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Osteogenesis imperfecta: translation of mutation to phenotype

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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7 January 2021

Rod Responses in Retinitis Pigmentosa, Dominantly Inherited

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7 January 2021

Morphological defects in oraJK84 photoreceptors caused by mutation in R1-6 opsin gene of Drosophila

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7 January 2021

Interference of nonsense mutations with eukaryotic messenger RNA stability

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7 January 2021

mRNA decay: finding the right targets

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7 January 2021

Premature translation termination mediates triosephosphate isomerase mRNA degradation

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7 January 2021

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

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7 January 2021

Mouse small eye results from mutations in a paired-like homeobox-containing gene

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7 January 2021

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

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7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

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7 January 2021

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

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7 January 2021

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

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7 January 2021

Mutations in the RB1 gene and their effects on transcription

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7 January 2021

C-terminal peptides of rhodopsin. Determination of the optimum sequence for recognition of retinal transducin

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7 January 2021

Three cytoplasmic loops of rhodopsin interact with transducin

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7 January 2021

Rhodopsin mutants that bind but fail to activate transducin

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7 January 2021

Electrophysiological study of Drosophila rhodopsin mutants

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7 January 2021

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

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7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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7 January 2021

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

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7 January 2021

Isolation and nucleotide sequence of the gene encoding human rhodopsin

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7 January 2021

An electroretinographic and molecular genetic study of X-linked cone degeneration

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7 January 2021

Identifiers

DOI

10.1038/NG0692-209

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1303237%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference