Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Complete congenital stationary night blindness (cCSNB) is associated with loss of function of rod and cone ON bipolar cells in the mammalian retina. In humans, mutations in NYX and GRM6 have been shown to cause the condition. Through the analysis of a consanguineous family and screening of nine addi...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Li, Zheng, Sergouniotis, Panagiotis I., Michaelides, Michel, Mackay, Donna S., Wright, Genevieve A., Devery, Sophie, Moore, Anthony T., Holder, Graham E., Robson, Anthony G., Webster, Andrew R.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2009
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775833/
https://ncbi.nlm.nih.gov/pubmed/19878917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.10.003
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