Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia

AIMS: Fibromuscular dysplasia (FMD) and spontaneous coronary artery dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. We aimed to identify rare genetic causes to elucidate molecular mech...

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書誌詳細
出版年:Cardiovasc Res
主要な著者: Georges, Adrien, Albuisson, Juliette, Berrandou, Takiy, Dupré, Délia, Lorthioir, Aurélien, D’Escamard, Valentina, Di Narzo, Antonio F, Kadian-Dodov, Daniella, Olin, Jeffrey W, Warchol-Celinska, Ewa, Prejbisz, Aleksander, Januszewicz, Andrzej, Bruneval, Patrick, Baranowska, Anna A, Webb, Tom R, Hamby, Stephen E, Samani, Nilesh J, Adlam, David, Fendrikova-Mahlay, Natalia, Hazen, Stanley, Wang, Yu, Yang, Min-Lee, Hunker, Kristina, Combaret, Nicolas, Motreff, Pascal, Chédid, Antoine, Fiquet, Béatrice, Plouin, Pierre-François, Mousseaux, Elie, Azarine, Arshid, Amar, Laurence, Azizi, Michel, Gornik, Heather L, Ganesh, Santhi K, Kovacic, Jason C, Jeunemaitre, Xavier, Bouatia-Naji, Nabila
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
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Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7983006/
https://ncbi.nlm.nih.gov/pubmed/32531060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/cvr/cvaa161
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