Molecular Basis of an Inherited Form of Incomplete Achromatopsia

Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia. Here we analyze the molecular basis of achromatopsia in two siblings with residual cone function. Psychophysic...

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Dades bibliogràfiques
Publicat a:J Neurosci
Autors principals: Tränkner, Dimitri, Jägle, Herbert, Kohl, Susanne, Apfelstedt-Sylla, Eckart, Sharpe, Lindsay T., Kaupp, U. Benjamin, Zrenner, Eberhart, Seifert, Reinhard, Wissinger, Bernd
Format: Artigo
Idioma:Inglês
Publicat: Society for Neuroscience 2004
Matèries:
Behavioral/Systems/Cognitive
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6729583/
https://ncbi.nlm.nih.gov/pubmed/14715947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.3883-03.2004
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