Article
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever.
European journal of human genetics : EJHG - 1 Jun 2016
Van Poucke Mario, Martlé Valentine, Van Brantegem Leen, Ducatelle Richard, Van Ham Luc, Bhatti Sofie, Peelman Luc J
Abstract excerpt
Alexander disease (AxD) is a fatal neurodegenerative disorder of astrocyte dysfunction in man, for which already a number of causal variants are described, mostly de novo dominant missense variants in the glial fibrillary acidic protein (GFAP). A similar disorder was already phenotypically described in animals but without the identification of causal variants. We diagnosed a Labrador retriever with a juvenile...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.