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
10.1371/journal.pone.0168271
PLoS One
2016 Dec 15;11(12):e0168271.
CC BY
https://pubmed.ncbi.nlm.nih.gov/27977773/
Codon, Nonsense Cone-Rod Dystrophies / genetics Heterotrimeric GTP-Binding Proteins / genetics
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
PMC5158031
27977773
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
2016