Concepedia

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Susanne Kohl, Frauke Coppieters, Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M. van Genderen, Frans C. C. Riemslag, Robert Łukowski,

The American Journal of Human Genetics · 2012 · 184 citations · 20 references

DOIFull text

Open access

Concepts

References

20

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

, , +13

Phototransduction, Dark Adaptation, and Rhodopsin Regeneration The Proctor Lecture

Trevor D. Lamb, Edward N. Pugh · Investigative Ophthalmology & Visual Science · 2006 · 307 citations · Full text

, , +17

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

Susanne Kohl · Human Molecular Genetics · 2000 · 298 citations · Full text

, , +8

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

, , +7

Genetic basis of total colourblindness among the Pingelapese islanders

Olof Sundin, Jun-Ming Yang, Yingying Li et al. · Nature Genetics · 2000 · 242 citations

, , +14