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Article Dans Une Revue JAMA Network Open Année : 2024

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease

Chaker Aloui
Claire Tourtier-Bellosta
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Importance: Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes. Objective: To identify novel genes and mechanisms associated with familial CSVD. Design, setting, and participants: This 2-stage study involved linkage analysis and a case-control study; linkage analysis and whole exome and genome sequencing were used to identify candidate gene variants in 2 large families with CSVD (9 patients with CSVD). Then, a case-control analysis was conducted on 246 unrelated probands, including probands from these 2 families and 244 additional probands. All probands (clinical onset
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hal-04563144 , version 1 (29-04-2024)

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Chaker Aloui, Lisa Neumann, Françoise Bergametti, Eric Sartori, Marc Herbreteau, et al.. An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease. JAMA Network Open, 2024, 7 (4), pp.e247034. ⟨10.1001/jamanetworkopen.2024.7034⟩. ⟨hal-04563144⟩
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