CNGA3 mutations in hereditary cone photoreceptor disorders (Q24533363)

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30 August 2019

title

CNGA3 mutations in hereditary cone photoreceptor disorders (English)

1 reference

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30 August 2019

main subject

photoreceptor protein

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author

Roberto Giorda

4

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30 August 2019

Samuel G. Jacobson

11

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30 August 2019

Eberhart Zrenner

26

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30 August 2019

Susanne Kohl

29

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30 August 2019

author name string

Wissinger B

1

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30 August 2019

Gamer D

2

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Jägle H

3

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30 August 2019

Marx T

5

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30 August 2019

Mayer S

6

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Tippmann S

7

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Broghammer M

8

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30 August 2019

Jurklies B

9

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30 August 2019

Rosenberg T

10

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Sener EC

12

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Tatlipinar S

13

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Hoyng CB

14

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30 August 2019

Castellan C

15

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30 August 2019

Bitoun P

16

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30 August 2019

Andreasson S

17

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30 August 2019

Rudolph G

18

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30 August 2019

Kellner U

19

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30 August 2019

Lorenz B

20

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30 August 2019

Wolff G

21

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Verellen-Dumoulin C

22

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30 August 2019

Schwartz M

23

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30 August 2019

Cremers FP

24

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Apfelstedt-Sylla E

25

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30 August 2019

Salati R

27

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30 August 2019

Sharpe LT

28

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30 August 2019

language of work or name

English

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publication date

30 August 2001

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American Journal of Human Genetics

30 August 2019

published in

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30 August 2019

volume

69

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30 August 2019

issue

4

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30 August 2019

page(s)

722-737

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Genetic basis of total colourblindness among the Pingelapese islanders

30 August 2019

cites work

1 reference

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Homozygosity mapping of the Achromatopsia locus in the Pingelapese

24 March 2017

1 reference

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Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors

24 March 2017

1 reference

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Genetic heterogeneity among blue-cone monochromats

24 March 2017

1 reference

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Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart

24 March 2017

1 reference

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Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

24 March 2017

1 reference

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Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin

24 March 2017

1 reference

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

24 March 2017

1 reference

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

24 March 2017

1 reference

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Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

24 March 2017

1 reference

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Molecular genetics of inherited variation in human color vision

24 March 2017

1 reference

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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.

24 March 2017

1 reference

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Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

27 September 2017

1 reference

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Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

27 September 2017

1 reference

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The arrangement of the three cone classes in the living human eye.

27 September 2017

1 reference

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Structure and function of cyclic nucleotide-gated channels

27 September 2017

1 reference

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Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries

27 September 2017

1 reference

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Electroretinograms in patients with achromatopsia

27 September 2017

1 reference

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Typical and atypical monochromacy studied by specific quantitative perimetry

27 September 2017

1 reference

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Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnos

27 September 2017

1 reference

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Typical total monochromacy. A histological and psychophysical study

27 September 2017

1 reference

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Blue cone monochromasia: diagnosis, genetic counseling and optical aids

30 May 2018

1 reference

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[Signal transduction in photoreceptor cells]

30 May 2018

1 reference

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Variations in cone populations for red-green color vision examined by analysis of mRNA

29 November 2018

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12 December 2020

A locus for autosomal recessive achromatopsia on human chromosome 8q

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12 December 2020

Congenital total color blindness: a clincopathological report

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12 December 2020

CONE DYSFUNCTION SYNDROMES

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12 December 2020

Receptors in the monochromat eye

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12 December 2020

Identifiers

DOI

10.1086/323613

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077 AND SRC:MED&resulttype=core&format=json

30 August 2019

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30 August 2019

PubMed publication ID

11536077

1 reference