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

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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Bibliographic Details
Main Authors: Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5158031?pdf=render

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http://europepmc.org/articles/PMC5158031?pdf=render

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