An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease
Résumé
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
Domaines
Ingénierie biomédicale
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https://hal.science/hal-04563144
Soumis le : lundi 29 avril 2024-15:58:42
Dernière modification le : mercredi 1 mai 2024-03:35:38
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- HAL Id : hal-04563144 , version 1
- DOI : 10.1001/jamanetworkopen.2024.7034
- PUBMED : 38630472
Citer
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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