Concepedia

Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia

Kazuki Kuniyoshi, Sanae Muraki-Oda, Hisao Ueyama, Futoshi Toyoda, Hiroyuki Sakuramoto, Hisakazu Ogita, Motohiro Irifune, Shuji Yamamoto, A. Nakao, Kazushige Tsunoda,

Japanese Journal of Ophthalmology · 2016 · 14 citations · 45 references

DOI

Concepts

References

45

ISCEV Standard for full-field clinical electroretinography (2015 update)

Daphne L. McCulloch, Michael F. Marmor, Mitchell Brigell et al. · Documenta Ophthalmologica · 2014 · 1.3K citations · Full text

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The human gene mutation database

D.N. Cooper · Nucleic Acids Research · 1998 · 612 citations · Full text

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

Susanne Kohl, Tim Marx, Ian Giddings et al. · Nature Genetics · 1998 · 339 citations

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CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 326 citations · Full text

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Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Susanne Kohl, Britta Baumann, Thomas Rosenberg et al. · The American Journal of Human Genetics · 2002 · 269 citations · Full text

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