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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2005-10-26
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pubmed:abstractText |
Congenital 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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0146-0404
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pubmed:author |
pubmed-author:BergerWolfgangW,
pubmed-author:CremersFrans P MFP,
pubmed-author:ForsterUrsulaU,
pubmed-author:HoebenFrankF,
pubmed-author:HoyngCarel BCB,
pubmed-author:LuhmannUlrich F OUF,
pubmed-author:MátyásGáborG,
pubmed-author:MeireFrançoiseF,
pubmed-author:NeidhardtJohnJ,
pubmed-author:RiemslagFransF,
pubmed-author:WyciskKatharinaK,
pubmed-author:ZeitzChristinaC,
pubmed-author:van GenderenMariaM
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pubmed:issnType |
Print
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4328-35
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:16249515-Adolescent,
pubmed-meshheading:16249515-Adult,
pubmed-meshheading:16249515-Alleles,
pubmed-meshheading:16249515-Child,
pubmed-meshheading:16249515-DNA Mutational Analysis,
pubmed-meshheading:16249515-Dark Adaptation,
pubmed-meshheading:16249515-Electroretinography,
pubmed-meshheading:16249515-Female,
pubmed-meshheading:16249515-Genes, Recessive,
pubmed-meshheading:16249515-Humans,
pubmed-meshheading:16249515-Light,
pubmed-meshheading:16249515-Male,
pubmed-meshheading:16249515-Middle Aged,
pubmed-meshheading:16249515-Mutation,
pubmed-meshheading:16249515-Night Blindness,
pubmed-meshheading:16249515-Pedigree,
pubmed-meshheading:16249515-Receptors, Metabotropic Glutamate,
pubmed-meshheading:16249515-Retinal Rod Photoreceptor Cells,
pubmed-meshheading:16249515-Vision, Ocular
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pubmed:year |
2005
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pubmed:articleTitle |
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
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pubmed:affiliation |
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland. zeitz@medgen.unizh.ch
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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