Associated Papers
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
Liu HY et al.
Molecular Genetics & Genomic Medicine, 2019
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
Sergouniotis PI et al.
Acta Ophthalmologica, 2012
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
Zeitz C et al.
Human Mutation, 2007
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2005
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