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A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

Autosomal dominant congenital stationary night blindness (adCSNB) is rare and results from altered phototransduction giving a Riggs type of electroretinogram (ERG) with loss of the rod a-wave and small b-waves. These patients usually have normal vision in light. Only few mutations in genes coding fo...

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Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Zeitz, Christina, Méjécase, Cécile, Stévenard, Mathilde, Michiels, Christelle, Audo, Isabelle, Marmor, Michael F.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5937575/
https://ncbi.nlm.nih.gov/pubmed/29850563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/7694801
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