Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia
α1β1可溶性鸟苷酸环化酶(主要一氧化氮受体)的缺失会导致烟雾病和贲门失弛症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.01.017
Liu, Pengfei; Gelowani, Violet; Zhang, Feng; Drory, Vivian E; Ben-Shachar, Shay; Roney, Erin; Medeiros, Adam C; Moore, Rebecca J; DiVincenzo, Christina; Burnette, William B; Higgins, Joseph J; Li, Jun; Orr-Urtreger, Avi; Lupski, James R; Kazazian, Haig H Jr; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Hirschhorn, Joel N; Eichler, Evan E; Hervé, Dominique; Philippi, Anne; Belbouab, Reda; Zerah, Michel; Chabrier, Stéphane; Collardeau-Frachon, Sophie; Bergametti, Francoise; Essongue, Aurore; Berrou, Eliane; Krivosic, Valérie; Sainte-Rose, Christian; Houdart, Emmanuel; Adam, Frédéric; Billiemaz, Kareen; Lebret, Marilyne; Roman, Sabine; Passemard, Sandrine; Boulday, Gwenola; Delaforge, Audrey; Guey, Stéphanie; Dray, Xavier; Chabriat, Hugues; Brouckaert, Peter; Bryckaert, Maryjke; Tournier-Lasserve, Elisabeth