Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma
代谢组引导基因组学用于鉴定嗜铬细胞瘤和副神经节瘤中异柠檬酸脱氢酶、富马酸水合酶和琥珀酸脱氢酶基因的致病变异
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-018-0106-5
Susan Richter, Laura Gieldon, Ying Pang, Mirko Peitzsch, Thanh Huynh, Rocio Leton, Bruna Viana, Tonino Ercolino, Anastasios Mangelis, Elena Rapizzi, Mario Menschikowski, Daniela Aust, Matthias Kroiss, Felix Beuschlein, Volker Gudziol, Henri Jlm Timmers, Jacques Lenders, Massimo Mannelli, Alberto Cas
