(Q48068019)

8 February 2018

title

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene (English)

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8 February 2018

retinitis punctata albescens

main subject

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E Souied

1

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8 February 2018

G Soubrane

2

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8 February 2018

P Benlian

3

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8 February 2018

G J Coscas

4

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8 February 2018

S Gerber

5

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8 February 2018

A Munnich

6

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8 February 2018

J Kaplan

7

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8 February 2018

language of work or name

English

0 references

publication date

1 January 1996

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8 February 2018

American Journal of Ophthalmology

published in

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8 February 2018

volume

121

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8 February 2018

issue

1

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8 February 2018

page(s)

19-25

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8 February 2018

Prevalence of retinitis pigmentosa in Maine

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Clinical and genetic heterogeneity in retinitis pigmentosa

7 January 2021

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7 January 2021

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

7 January 2021

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

7 January 2021

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A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

7 January 2021

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Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

7 January 2021

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A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

7 January 2021

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Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

7 January 2021

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Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

7 January 2021

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

7 January 2021

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Isolation and nucleotide sequence of the gene encoding human rhodopsin

7 January 2021

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

7 January 2021

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Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations

7 January 2021

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

7 January 2021

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Missense rhodopsin mutation in a family with recessive RP

7 January 2021

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Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

7 January 2021

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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

7 January 2021

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Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

7 January 2021

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Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

7 January 2021

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

7 January 2021

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

7 January 2021

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

7 January 2021

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Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation

7 January 2021

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Differential effects of apolipoproteins E3 and E4 on neuronal growth in vitro

7 January 2021

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An increased incidence of apolipoprotein E2/E2 and E4/E4 in retinitis pigmentosa

7 January 2021

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Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa

7 January 2021

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How sensitive is PCR-SSCP?

7 January 2021

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The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

7 January 2021

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

7 January 2021

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Rhodopsin mutations in autosomal dominant retinitis pigmentosa

7 January 2021

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Clinical and serum lipid findings in a large family with autosomal dominant retinitis pigmentosa

7 January 2021

1 reference

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Apolipoprotein E polymorphism and atherosclerosis

7 January 2021

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A study of retinitis pigmentosa in the City of Birmingham. I Prevalence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2970530-6

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0002-9394(14)70530-6

1 reference

8 February 2018

1 reference

8 February 2018