(Q35934812)

11 August 2017

1 reference

title

Molecular genetics of color-vision deficiencies (English)

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11 August 2017

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Samir S Deeb

1

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11 August 2017

1 May 2004

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11 August 2017

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11 August 2017

21

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11 August 2017

191-196

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11 August 2017

3

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Homozygosity mapping of the Achromatopsia locus in the Pingelapese

11 August 2017

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Defective colour vision associated with a missense mutation in the human green visual pigment gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Polymorphism in red photopigment underlies variation in colour matching

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

The photoreceptors in atypical achromatopsia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Variation in color matching and discrimination among deuteranomalous trichromats: theoretical implications of small differences in photopigments

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Selective expression of human X chromosome-linked green opsin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Mutually exclusive expression of human red and green visual pigment-reporter transgenes occurs at high frequency in murine cone photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Genetics of color vision deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

A locus control region adjacent to the human red and green visual pigment genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Molecular determinants of human red/green color discrimination

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Genetic basis of total colourblindness among the Pingelapese islanders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Spectral tuning of pigments underlying red-green color vision

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Analysis of fusion gene and encoded photopigment of colour-blind humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Polymorphism of the long-wavelength cone in normal human colour vision

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Molecular genetics of inherited variation in human color vision

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Molecular genetics of human blue cone monochromacy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Absorption spectra of human cone pigments

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Molecular evolution of color vision in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

A study of women heterozygous for colour deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

Analysis of red/green color discrimination in subjects with a single X-linked photopigment gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

Absorption spectra of the hybrid pigments responsible for anomalous color vision

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

Tandem array of human visual pigment genes at Xq28

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

Severity of color vision defects: electroretinographic (ERG), molecular and behavioral studies

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

L, M and L-M hybrid cone photopigments in man: deriving lambda max from flicker photometric spectral sensitivities

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

Rayleigh match ranges of red/green color-deficient observers: psychophysical and molecular studies

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

Visual pigment gene structure and expression in human retinae

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

Visual pigment gene structure and the severity of color vision defects

1 reference

https://api.crossref.org/works/10.1017%2FS0952523804213244

7 January 2021

10.1017/S0952523804213244

Identifiers

DOI

1 reference

11 August 2017

1 reference

PubMed ID

15518188