GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. We...

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Main Authors: Peachey, Neal S., Ray, Thomas A., Florijn, Ralph, Rowe, Lucy B., Sjoerdsma, Trijntje, Contreras-Alcantara, Susana, Baba, Kenkichi, Tosini, Gianluca, Pozdeyev, Nikita, Iuvone, P. Michael, Bojang, Pasano, Pearring, Jillian N., Simonsz, Huibert Jan, van Genderen, Maria, Birch, David G., Traboulsi, Elias I., Dorfman, Allison, Lopez, Irma, Ren, Huanan, Goldberg, Andrew F.X., Nishina, Patsy M., Lachapelle, Pierre, McCall, Maureen A., Koenekoop, Robert K., Bergen, Arthur A.B., Kamermans, Maarten, Gregg, Ronald G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276656/
https://ncbi.nlm.nih.gov/pubmed/22325362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.12.006
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