Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection

Abstract excerpt

BACKGROUND: Spontaneous coronary artery dissection (SCAD) is an uncommon idiopathic disorder predominantly affecting young, otherwise healthy women. Rare familial cases reveal a genetic predisposition to disease. The aim of this study was to identify a novel susceptibility gene for SCAD. METHODS: Whole-exome sequencing was performed in a family comprised of 3 affected individuals and filtered to identify rare,...

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