Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia
上游重叠的开放阅读框终止于 c.125,导致内皮糖蛋白减少,从而导致遗传性出血性毛细血管扩张症。
期刊:Communications Biology
影响因子:5.1
doi:10.1038/s42003-025-08461-6
Proust, Carole; Deiber, Clémence; Meguerditchian, Caroline; Tusseau, Maud; Guilhem, Alexandre; Mohamed, Shirine; Goyenvalle, Aurélie; Jaspard-Vinassa, Béatrice; Dupuis-Girod, Sophie; Trégouët, David-Alexandre; Soukarieh, Omar