A rare missense mutation in MYH6 confers high risk of coarctation of the aorta
Þorsteinn Björnsson, Rósa B. Þórólfsdóttir, Garðar Sveinbjörnsson, Patrick Sulem, Gudmundur Logi Norddahl, Anna Helgadóttir, Sólveig Grétarsdóttir, Audur Magnusdottir, Ragnar Daníelsen, Emil L Sigurdsson, Berglind Aðalsteinsdóttir, Sverrir Ingi Gunnarsson, Ingileif Jónsdóttir, Davíð O. Arnar, Hróðmar Helgason, , Kāri Stefánsson
The paper identifies a rare missense mutation in MYH6 associated with increased risk of coarctation of the aorta and other cardiac conditions.
European Heart Journal · Mar 2, 2018Peer-reviewedGenetics