Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy
LRP2基因的变体编码一种多功能细胞表面内吞受体,与听力损失和视网膜营养不良有关。
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14312
Faridi, Rabia; Yousaf, Rizwan; Gu, Shoujun; Inagaki, Sayaka; Turriff, Amy E; Pelstring, Keith; Guan, Bin; Naik, Amelia; Griffith, Andrew J; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Awandare, Gordon A; Morell, Robert J; Tsilou, Ekaterini; Noyes, Amanda G; Sulmonte, Laura A G; Wonkam, Ambroise; Schrauwen, Isabelle; Leal, Suzanne M; Azaiez, Hela; Brewer, Carmen C; Riazuddin, Sheikh; Hufnagel, Robert B; Hoa, Michael; Zein, Wadih M; de Dios, J Karl; Friedman, Thomas B