Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
先天性蛋白丢失性肠病:一种由 DGAT1 基因突变引起的先天性脂质代谢异常
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2016.5
Stephen Joshi, Vilboux Thierry, Haberman Yael, Pri-Chen Hadass, Pode-Shakked Ben, Mazaheri Sina, Marek-Yagel Dina, Barel Ortal, Di Segni Ayelet, Eyal Eran, Hout-Siloni Goni, Lahad Avishay, Shalem Tzippora, Rechavi Gideon, Malicdan May Christine V, Weiss Batia, Gahl William A, Anikster Yair