Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
脑内 UGP2 缺失会导致严重的癫痫性脑病，强调必需基因的双等位基因异构体特异性起始缺失突变可导致遗传疾病
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-019-02109-6
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M Berdowski, Maysoon Alsagob, Ivan Capo, Herma C van der Linde, Paul van den Berg, Edwin H Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F J van IJcken, Walter G de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst
