Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

We report three unrelated patients with mutations in the GRM6 gene that normally encodes the glutamate receptor mGluR6. This neurotransmitter receptor has been shown previously to be present only in the synapses of the ON bipolar cell dendrites, and it mediates synaptic transmission from rod and con...

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Detalhes bibliográficos
Main Authors: Dryja, Thaddeus P., McGee, Terri L., Berson, Eliot L., Fishman, Gerald A., Sandberg, Michael A., Alexander, Kenneth R., Derlacki, Deborah J., Rajagopalan, Aruna S.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2005
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC555731/
https://ncbi.nlm.nih.gov/pubmed/15781871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0501233102
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