Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Vincent, Ajoy, Audo, Isabelle, Tavares, Erika, Maynes, Jason T., Tumber, Anupreet, Wright, Thomas, Li, Shuning, Michiels, Christelle, Condroyer, Christel, MacDonald, Heather, Verdet, Robert, Sahel, José-Alain, Hamel, Christian P., Zeitz, Christina, Héon, Elise
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867910/
https://ncbi.nlm.nih.gov/pubmed/27063057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.03.021
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