GeneticsbioRxivPreprint
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…·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.
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