Susanne Kohl
- Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
1998/07/01 by Susanne Kohl, Tim Marx, Ian Giddings +7 · 3 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Achromatopsia #Biology #Candidate gene #Connexins and lens biology #Gene #Genetics #Locus (genetics) #Missense mutation #Mutation #Neuroscience #Retina #Retinal #Retinal Development and Disorders #Visual phototransduction #melanin and skin pigmentation
- Molecular Basis of an Inherited Form of Incomplete Achromatopsia
2004/01/07 by Dimitri Tränkner, Herbert Jägle, Susanne Kohl +6 · 2 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Retinal Development and Disorders #Photoreceptor and optogenetics research #Neuroscience and Neuropharmacology Research #Achromatopsia #Mutant #Genetics #Cyclic nucleotide-gated ion channel #Biology #Phenotype #Mutation #Gene #Protein subunit #Heterologous expression #Biophysics #Cell biology #Nucleotide #Recombinant DNA #Biochemistry #Cyclic nucleotide #Retinal