Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm

Intracranial aneurysms (IAs) are acquired cerebrovascular abnormalities characterized by localized dilation and wall thinning in intracranial arteries, possibly leading to subarachnoid hemorrhage and severe outcome in case of rupture. Here, we identified one rare nonsense variant (c.1378A>T) in t...

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Опубликовано в: :Am J Hum Genet
Главные авторы: Bourcier, Romain, Le Scouarnec, Solena, Bonnaud, Stéphanie, Karakachoff, Matilde, Bourcereau, Emmanuelle, Heurtebise-Chrétien, Sandrine, Menguy, Céline, Dina, Christian, Simonet, Floriane, Moles, Alexis, Lenoble, Cédric, Lindenbaum, Pierre, Chatel, Stéphanie, Isidor, Bertrand, Génin, Emmanuelle, Deleuze, Jean-François, Schott, Jean-Jacques, Le Marec, Hervé, Loirand, Gervaise, Desal, Hubert, Redon, Richard
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2018
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5778084/
https://ncbi.nlm.nih.gov/pubmed/29304371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.12.006
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