A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
SLC37A4基因突变会导致一种常染色体显性遗传的先天性糖基化障碍，其特征是肝功能障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.04.013
Ng, Bobby G; Sosicka, Paulina; Fenaille, François; Harroche, Annie; Vuillaumier-Barrot, Sandrine; Porterfield, Mindy; Xia, Zhi-Jie; Wagner, Shannon; Bamshad, Michael J; Vergnes-Boiteux, Marie-Christine; Cholet, Sophie; Dalton, Stephen; Dell, Anne; Dupré, Thierry; Fiore, Mathieu; Haslam, Stuart M; Huguenin, Yohann; Kumagai, Tadahiro; Kulik, Michael; McGoogan, Katherine; Michot, Caroline; Nickerson, Deborah A; Pascreau, Tiffany; Borgel, Delphine; Raymond, Kimiyo; Warad, Deepti; Flanagan-Steet, Heather; Steet, Richard; Tiemeyer, Michael; Seta, Nathalie; Bruneel, Arnaud; Freeze, Hudson H
