A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections
Y.B.A. Wan, Michael A. Simpson, José Antonio Aragon-Martin, Daniel P. S. Osborn, Ellen S. Regalado, Dong Guo, Cathérine Boileau, Guillaume Jondeau, Louise Benarroch, Yukiko Isekame, Jaipreet Bharj, James F. Sneddon, Elizabeth Fisher, John Dean, Maite Tome, , Anne H. Child
The paper identifies a mutation in LMOD1 associated with thoracic aortic aneurysms and dissections in a British family and validates its pathogenicity using zebrafish models.
bioRxiv · Jul 14, 2017 · PreprintGenetics