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pubmed-article:16249515pubmed:abstractTextCongenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision that occurs in autosomal dominant, autosomal recessive, or X-linked forms. Autosomal recessive (ar)CSNB seems to be very rare. Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB.lld:pubmed
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pubmed-article:16249515pubmed:articleTitleMutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.lld:pubmed
pubmed-article:16249515pubmed:affiliationDivision of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland. zeitz@medgen.unizh.chlld:pubmed
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