Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
编码ADAMTS样蛋白6的THSD4基因的致病性变异会导致遗传性胸主动脉瘤。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-00947-4
Elbitar, Sandy; Renard, Marjolijn; Arnaud, Pauline; Hanna, Nadine; Jacob, Marie-Paule; Guo, Dong-Chuan; Tsutsui, Ko; Gross, Marie-Sylvie; Kessler, Ketty; Tosolini, Laurent; Dattilo, Vincenzo; Dupont, Sebastien; Jonquet, Jeremie; Langeois, Maud; Benarroch, Louise; Aubart, Melodie; Ghaleb, Youmna; Abou Khalil, Yara; Varret, Mathilde; El Khoury, Petra; Ho-Tin-Noé, Benoit; Alembik, Yves; Gaertner, Sébastien; Isidor, Bertrand; Gouya, Laurent; Milleron, Olivier; Sekiguchi, Kiyotoshi; Milewicz, Dianna; De Backer, Julie; Le Goff, Carine; Michel, Jean-Baptiste; Jondeau, Guillaume; Sakai, Lynn Y; Boileau, Catherine; Abifadel, Marianne
