NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
NBEAL2基因在灰血小板综合征中发生突变,并且是血小板α颗粒生物合成所必需的。
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.883
Gunay-Aygun, Meral; Falik-Zaccai, Tzipora C; Vilboux, Thierry; Zivony-Elboum, Yifat; Gumruk, Fatma; Cetin, Mualla; Khayat, Morad; Boerkoel, Cornelius F; Kfir, Nehama; Huang, Yan; Maynard, Dawn; Dorward, Heidi; Berger, Katherine; Kleta, Robert; Anikster, Yair; Arat, Mutlu; Freiberg, Andrew S; Kehrel, Beate E; Jurk, Kerstin; Cruz, Pedro; Mullikin, Jim C; White, James G; Huizing, Marjan; Gahl, William A