Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a...

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Publicat a:PLoS One
Autors principals: Méjécase, Cécile, Laurent-Coriat, Caroline, Mayer, Claudine, Poch, Olivier, Mohand-Saïd, Saddek, Prévot, Camille, Antonio, Aline, Boyard, Fiona, Condroyer, Christel, Michiels, Christelle, Blanchard, Steven, Letexier, Mélanie, Saraiva, Jean-Paul, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2016
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5158031/
https://ncbi.nlm.nih.gov/pubmed/27977773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0168271
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