EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
EMILIN1 缺乏会导致动脉曲折和骨质减少,并将弹性蛋白生成受损与胶原纤维生成缺陷联系起来
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.10.010
Christin S Adamo, Aude Beyens, Alvise Schiavinato, Douglas R Keene, Sara F Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore Pottie, Laura Muiño-Mosquera, Elif Yilmaz Gulec, Alper Gezdirici, Paola Braghetta, Paolo Bonaldo, Raimund Wagener, Mats Paulsson, He