Article
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.
Neurology - 26 Nov 2019
Tan Rhea Y Y, Traylor Matthew, Megy Karyn, Duarte Daniel, Deevi Sri V V, Shamardina Olga, Mapeta Rutendo P, Ouwehand Willem H, Gräf Stefan, Downes Kate, Markus Hugh S
Abstract excerpt
OBJECTIVES: To determine the frequency of rare and pertinent disease-causing variants in small vessel disease (SVD)-associated genes (such as NOTCH3, HTRA1, COL4A1, COL4A2, FOXC1, TREX1, and GLA) in cerebral SVD, we performed targeted gene sequencing in 950 patients with younger-onset apparently sporadic SVD stroke using a targeted sequencing panel. METHODS: We designed a high-throughput sequencing panel to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.