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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Veröffentlicht in:	American journal of human genetics 2018-01, Vol.102 (1), p.133-141
Hauptverfasser:	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, Desal, Hubert, Connault, Jérôme, Le Tourneau, Thierry, Viarouge, Marie Pierre, Papagiannaki, Chrisanthi, Piotin, Michel, Redjem, Hocine, Mazighi, Mikael, Desilles, Jean Philippe, Naggara, Olivier, Trystram, Denis, Edjlali-Goujon, Myriam, Rodriguez, Christine, Ben Hassen, Waghi, Saleme, Suzanna, Mounayer, Charbel, Levrier, Olivier, Aguettaz, Pierre, Combaz, Xavier, Pasco, Anne, Berthier, Emeline, Bintner, Marc, Molho, Marc, Gauthier, Pascale, Chivot, Cyril, Costalat, Vincent, Darganzil, Cyril, Bonafé, Alain, Januel, Anne Christine, Michelozzi, Caterina, Cognard, Christophe, Bonneville, Fabrice, Tall, Philippe, Darcourt, Jean, Biondi, Alessandra, Iosif, Cristina, Pomero, Elisa, Ferre, Jean Christophe, Gauvrit, Jean Yves, Eugene, François, Raoult, Hélène, Gentric, Jean Christophe, Ognard, Julien, Anxionnat, René, Bracard, Serge, Derelle, Anne Laure, Tonnelet, Romain, Spelle, Laurent, Ikka, Léon, Fahed, Robert, Rouchaud, Aymeric, Ozanne, Augustin, Caroff, Jildaz, Ben Achour, Nidal, Moret, Jacques, Chabert, Emmanuel, Berge, Jérôme, Marnat, Gaultier, Barreau, Xavier, Gariel, Florent, Clarencon, Frédéric, Aggour, Mohammed, Ricolfi, Frédéric, Chavent, Adrien, Lebidinsky, Pablo, Lemogne, Brivael, Herbreteau, Denis, Bibi, Richard, Pierot, Laurent, Soize, Sébastien, Labeyrie, Marc Antoine, Vandendries, Christophe, Houdart, Emmanuel, Kazemi, Appoline, Leclerc, Xavier, Pruvo, Jean Pierre, Gallas, Sophie, Velasco, Stéphane, Redon, Richard
Format:	Artikel
Sprache:	eng
Schlagworte:	Angiopoietin-like Proteins - blood Angiopoietin-like Proteins - genetics ANGPTL6 Bioengineering burden test Cardiology and cardiovascular system Cells, Cultured Codon, Nonsense - genetics Family Female Genetic Predisposition to Disease Genetics HEK293 Cells Human genetics Human health and pathology Humans Imaging intracranial aneurysm Intracranial Aneurysm - blood Intracranial Aneurysm - genetics Life Sciences Male Middle Aged Mutation - genetics Open Reading Frames - genetics Pedigree Risk Factors whole-exome sequencing
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