An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Suvi Mäkeläinen, Marta Gòdia, Minas Hellsand, Agnese Viļuma, Daniela Hahn, Karim Makdoumi, Caroline J. Zeiss, Cathryn S. Mellersh, Sally L. Ricketts, Kristina L. Narfström, Finn Hallböök, Björn Ekesten, Göran Andersson, Tomas F. Bergström
The paper identifies a loss-of-function mutation in the ABCA4 gene in Labrador retrievers with retinal degeneration, suggesting dogs as a model for human Stargardt disease.
PLoS Genetics · Mar 19, 2019Peer-reviewedGenetics