Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia (Q28262677)

2

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Tamaki Gekka

3

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Akiko Kubo

4

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Tomokazu Takeuchi

5

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Kenji Kitahara

The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry

6

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language of work or name

English

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publication date

2006

1 reference

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23

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issue

3-4

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page(s)

395-402

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cites work

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

CNGA3 mutations in hereditary cone photoreceptor disorders

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

Genetic basis of total colourblindness among the Pingelapese islanders

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

Subunit configuration of heteromeric cone cyclic nucleotide-gated channels

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

20 April 2017

1 reference

https://api.crossref.org/works/10.1017/S095252380623308X

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

20 April 2017

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

20 April 2017

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Clinical features of achromatopsia in Swedish patients with defined genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Progressive cone dystrophy associated with mutation in CNGB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Rod and cone photoreceptor cells express distinct genes for cGMP-gated channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

The enigma of typical total monochromacy

21 January 2018

2 references

https://api.crossref.org/works/10.1017%2FS095252380623308X

21 January 2018

https://api.crossref.org/works/10.1017%2FS095252380623308X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

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%2FS095252380623308X

Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Clinical heterogeneity between two Japanese siblings with congenital achromatopsia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

21 January 2018

The cone degenerations

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

Genetics of color vision deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

7 January 2021

Function and morphology of macula before and after removal of idiopathic epiretinal membrane

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

7 January 2021

https://api.crossref.org/works/10.1017%2FS095252380623308X

1 reference

7 January 2021

CONE DYSFUNCTION SYNDROMES

1 reference

https://api.crossref.org/works/10.1017%2FS095252380623308X

7 January 2021