Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans

“Cone dystrophy with supernormal rod electroretinogram (ERG)” is an autosomal recessive disorder that causes lifelong visual loss combined with a supernormal ERG response to a bright flash of light. We have linked the disorder to a 0.98-cM (1.5-Mb) region on chromosome 9p24, flanked by rs1112534 and...

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Main Authors: Wu, Huimin, Cowing, Jill A., Michaelides, Michel, Wilkie, Susan E., Jeffery, Glen, Jenkins, Sharon A., Mester, Viktoria, Bird, Alan C., Robson, Anthony G., Holder, Graham E., Moore, Anthony T., Hunt, David M., Webster, Andrew R.
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2006
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559534/
https://ncbi.nlm.nih.gov/pubmed/16909397
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