Mutation Analysis Identifies GUCY2D as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration

PURPOSE: Heterozygous mutations in the GUCY2D gene, which encodes the membrane-bound retinal guanylyl cyclase-1 protein (RetGC-1), have been shown to cause autosomal dominant inherited cone degeneration and cone–rod degeneration (adCD, adCRD). The present study was a comprehensive screening of the G...

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Vydáno v:Invest Ophthalmol Vis Sci
Hlavní autoři: Kitiratschky, Veronique B. D., Wilke, Robert, Renner, Agnes B., Kellner, Ulrich, Vadalà, Maria, Birch, David G., Wissinger, Bernd, Zrenner, Eberhart, Kohl, Susanne
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5358799/
https://ncbi.nlm.nih.gov/pubmed/18487367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.08-1901
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