article_metadata: 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
article_metadata: 10.1371/journal.pone.0168271
article_metadata: PLoS One
article_metadata: 2016 Dec 15;11(12):e0168271.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/27977773/
article_metadata: Codon, Nonsense Cone-Rod Dystrophies / genetics Heterotrimeric GTP-Binding Proteins / genetics
article_metadata: Codon, Nonsense Cone-Rod Dystrophies / genetics Heterotrimeric GTP-Binding Proteins / genetics Case Reports Adult DNA Mutational Analysis High-Throughput Nucleotide Sequencing Homozygote Humans Male Retinitis Pigmentosa / genetics Transducin Codon, Nonsense GNAT1 protein, human Heterotrimeric GTP-Binding Proteins Transducin
article_metadata: PMC5158031
article_metadata: 27977773
article_metadata: Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
article_metadata: 2016