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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados