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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Vydáno v:PLoS One
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2016
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Research Article
On-line přístup: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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