Article
Heterozygote Wdr36-deficient mice do not develop glaucoma.
Experimental eye research - 1 Nov 2014
Gallenberger Martin, Kroeber Markus, März Loreen, Koch Marcus, Fuchshofer Rudolf, Braunger Barbara M, Iwata Takeshi, Tamm Ernst R
Abstract excerpt
There is an ongoing controversy regarding the role of WDR36 sequence variants in the pathogenesis of primary open-angle glaucoma (POAG). WDR36 is a nucleolar protein involved in the maturation of 18S rRNA. The function of WDR36 is essential as homozygous Wdr36-deficient mouse embryos die before reaching the blastocyst stage. Here we provide a detailed analysis of the phenotype of heterozygous Wdr36-deficient...
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