Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway
对患有自身免疫性肝炎的儿童进行全外显子组测序，发现参与 mTORC1 信号通路的基因存在突变
期刊:Gastro Hep Advances
影响因子:
doi:10.1016/j.gastha.2025.100808
Gaigne, Léa-Philippine; Besnard, Caroline; Debeaupuis, Orianne; Degtiar, Artem; Nhat, Duong Ho; Stolzenberg, Marie-Claude; Camara, Fatou; Pellé, Olivier; Schvartz, Adrien; Perin, Mélodie; Almes, Marion; Darmellah-Remil, Amaria; Gonzales, Emmanuel; Gardin, Antoine; Habes, Dalila; Destombe, Sylvie; De Martin, Eleonora; Duclos-Vallée, Jean-Charles; Arkwright, Peter D; Rieux-Laucat, Frédéric; Jacquemin, Emmanuel; Magerus, Aude
mTOR
信号转导
ORC1
自身免疫性肝炎
肝炎
免疫/内分泌
