Identification of two independent COL5A1 variants in dogs with Ehlers Danlos syndrome
Anina Bauer, John F. Bateman, Shireen R. Lamandé, Eric G. Hanssen, Shannon G. M. Kirejczyk, Mark Yee, Ali Ramiche, Vidhya Jagannathan, Monika Maria Welle, Tosso Leeb, Fiona L. Bateman
The paper identifies two COL5A1 mutations in dogs with EDS-like symptoms, confirming a genetic basis for the condition and demonstrating the utility of DNA sequencing in diagnosis.
Genes · Sep 21, 2019Peer-reviewedGenetics