MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections
MFAP5 功能丧失突变强调基质改变在家族性胸主动脉瘤和夹层发病机制中的作用
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.10.018
Mathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong-Chuan Guo, Laurent Tosolini, Benoit Ho-Tin-Noe, Ellen Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis-Girod, Laurence Faivre, Thomas Edouard, Yves Dulac, Tiffany Busa, L