Article
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.
Stroke - 1 Dec 2016
Santiago-Sim Teresa, Fang Xiaoqian, Hennessy Morgan L, Nalbach Stephen V, DePalma Steven R, Lee Ming Sum, Greenway Steven C, McDonough Barbara, Hergenroeder Georgene W, Patek Kyla J, Colosimo Sarah M, Qualmann Krista J, Hagan John P, Milewicz Dianna M, MacRae Calum A, Dymecki Susan M, Seidman Christine E, Seidman J G, Kim Dong H
Abstract excerpt
BACKGROUND AND PURPOSE: A ruptured intracranial aneurysm (IA) is the leading cause of a subarachnoid hemorrhage. This study seeks to define a specific gene whose mutation leads to disease. METHODS: More than 500 IA probands and 100 affected families were enrolled and clinically characterized. Whole exome sequencing was performed on a large family, revealing a segregating THSD1 (thrombospondin type 1 domain...
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