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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Pubblicato in:Am J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018
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Article
Accesso online: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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