Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
TRAPPC4介导的囊泡运输缺陷与严重的综合征型智力障碍相关。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awz374
Van Bergen, Nicole J; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J H; Coban Akdemir, Zeynep H; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V; Jhangiani, Shalini N; Fatih, Jawid M; Rosenfeld, Jill A; Posey, Jennifer E; Gibbs, Richard A; Karaca, Ender; Massey, Sean; Ranasinghe, Thisara G; Sleiman, Patrick; Troedson, Chris; Lupski, James R; Sacher, Michael; Segev, Nava; Hakonarson, Hakon; Christodoulou, John