Article
Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial Aneurysm.
World neurosurgery - 1 Jan 2018
Wu YaQiu, Li Zhili, Shi Yi, Chen Longyi, Tan Haibin, Wang Zhenyu, Yin Cheng, Liu Ling, Hu Junting
Abstract excerpt
BACKGROUND: Genetic risk factors can contribute to the etiology of intracranial aneurysms (IAs), and the genetic predisposition of IAs is largely unknown. Our study aimed to explore the role of rare variations in IA susceptibility. METHODS: Whole-exome sequencing (WES) was performed in a representative family with a history of multiple cases of IAs. WES variants were prioritized by various filtering strategies,...
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