Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
异常包含致病基因外显子导致德拉韦综合征及相关SCN1A基因相关遗传性癫痫
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.10.023
Carvill, Gemma L; Engel, Krysta L; Ramamurthy, Aishwarya; Cochran, J Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L; Hollingsworth, Georgie; Holder, Dylan H; Regan, Brigid M; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E Martina; Nguyen, John; Barsh, Gregory S; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel F; De Jonghe, Peter; Scheffer, Ingrid E; Myers, Richard M; Cooper, Gregory M; Mefford, Heather C
