(Q45086932)

9 December 2017

Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes (English)

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9 December 2017

U Kellner

1

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9 December 2017

B Wissinger

2

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9 December 2017

S Kohl

3

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9 December 2017

H Kraus

4

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9 December 2017

M H Foerster

5

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9 December 2017

language of work or name

German

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publication date

1 August 2004

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9 December 2017

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9 December 2017

101

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9 December 2017

8

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9 December 2017

830-835

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https://scigraph.springernature.com/pub.10.1007/s00347-003-0976-y

9 December 2017

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cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

CNGA3 mutations in hereditary cone photoreceptor disorders

1 reference

12 December 2020

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

1 reference

12 December 2020

Clinical features of achromatopsia in Swedish patients with defined genotypes

1 reference

12 December 2020

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.

1 reference

12 December 2020

Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)

1 reference

12 December 2020

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).

1 reference

12 December 2020

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

1 reference

12 December 2020

Guidelines for basic multifocal electroretinography (mfERG).

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic basis of total colourblindness among the Pingelapese islanders

1 reference

12 December 2020

Electrophysiological evaluation of visual loss in Müller cell sheen dystrophy

1 reference

12 December 2020

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00347-003-0976-Y

Identifiers

DOI

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Dimensions Publication ID

9 December 2017

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