Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection

• Main Authors: Wenwen Zhang (Author), Qian Han (Author), Zhao Liu (Author), Wei Zhou (Author), Qing Cao (Author), Weimin Zhou (Author)
• Format: Knjiga
• Izdano: BMC, 2018-12-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Thoracic aortic aneurysm and dissection (TAAD) is a common condition associated with high mortality. It is predominantly inherited in an autosomal dominant manner with reduced penetrance and variable expression. The genetic basis of the majority of TAAD cases remains unknown. Cas...