NEW ASSAY FOR DETECTING OR PREDICTING THORACIC AORTIC ANEURYSMS

摘要

The invention relates to a method for diagnosing the cause or the predisposition for thoracic aortic aneurysms and/or other arterial aneurysm by testing a sample of a subject for a mutation in the SMAD3 gene and/or SMAD3 protein wherein said mutation is chosen from the group of 1157CT, 1080CT, 1039-1040 delAT, (on protein level Arg287Trp, Thr261Ile, a premature protein termination at position 309, respectively) and combinations thereof.