(Q34385718)

1 August 2017

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia (English)

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1 August 2017

22

Dorit Lev

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1 August 2017

14

Richard G Weleber

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1 August 2017

28

Bernd Wissinger

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1 August 2017

Susanne Kohl

1

1 reference

1 August 2017

Balazs Varsanyi

2

1 reference

1 August 2017

Gesine Abadin Antunes

3

1 reference

1 August 2017

Britta Baumann

4

1 reference

1 August 2017

Carel B Hoyng

5

1 reference

1 August 2017

Herbert Jägle

6

1 reference

1 August 2017

Thomas Rosenberg

7

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1 August 2017

Ulrich Kellner

8

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1 August 2017

Birgit Lorenz

9

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1 August 2017

Roberto Salati

10

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1 August 2017

Bernhard Jurklies

11

1 reference

1 August 2017

Agnes Farkas

12

1 reference

1 August 2017

Sten Andreasson

13

1 reference

1 August 2017

Samuel G Jacobson

15

1 reference

1 August 2017

Günther Rudolph

16

1 reference

1 August 2017

Claudio Castellan

17

1 reference

1 August 2017

Helene Dollfus

18

1 reference

1 August 2017

Eric Legius

19

1 reference

1 August 2017

Mario Anastasi

20

1 reference

1 August 2017

Pierre Bitoun

21

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1 August 2017

Paul A Sieving

23

1 reference

1 August 2017

Francis L Munier

24

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1 August 2017

Eberhart Zrenner

25

1 reference

1 August 2017

Lindsay T Sharpe

26

1 reference

1 August 2017

Frans P M Cremers

27

1 reference

1 August 2017

1 March 2005

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European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

13

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1 August 2017

3

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1 August 2017

302-308

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201269

1 August 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

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/10.1038%2FSJ.EJHG.5201269

Genetic basis of total colourblindness among the Pingelapese islanders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

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/10.1038%2FSJ.EJHG.5201269

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

[Signal transduction in photoreceptor cells]

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

CNGA3 mutations in hereditary cone photoreceptor disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Clinical features of achromatopsia in Swedish patients with defined genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Hereditary retinochoroidal dystrophies. Part 2: differential diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Functionally Important Calmodulin-binding Sites in Both NH2- and COOH-terminal Regions of the Cone Photoreceptor Cyclic Nucleotide-gated Channel CNGB3 Subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

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/10.1038%2FSJ.EJHG.5201269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Progressive cone dystrophy associated with mutation in CNGB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Molecular basis of an inherited form of incomplete achromatopsia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Subunit configuration of heteromeric cone cyclic nucleotide-gated channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

Selective absence of cone outer segment beta 3-transducin immunoreactivity in hereditary cone degeneration (cd).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

The vision of typhoon lengkieki.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

inferred from DOI database lookup

7 January 2021

based on heuristic

Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201269

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201269

1 reference

1 August 2017

1 reference