MpdzNull Allele in an Avian Model of Retinal Degeneration and Mutations in Human Leber Congenital Amaurosis and Retinitis Pigmentosa
Investigative Ophthalmology & Visual Science2011Vol. 52(10), pp. 7432–7432
Citations Over TimeTop 25% of 2011 papers
Manir Ali, P.M. Hocking, Martin McKibbin, Sorcha Finnegan, Mike Shires, James A. Poulter, Katrina Prescott, Adam Booth, Yasmin Raashid, Hussain Jafri, Jonathan B. Ruddle, David A. Mackey, Samuel G. Jacobson, Carmel Toomes, Douglas H. Lester, David W. Burt, William Curry, Chris F. Inglehearn
Abstract
These findings reveal that MPDZ is essential for normal development of the retina and may have a role in maintaining photoreceptor integrity. The identification of human mutations suggests that MPDZ plays a role in human retinal disease, but the precise nature of this role remains to be determined.
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