A functional null mutation of SCN1B in a patient with Dravet syndrome
Dravet综合征患者中发现SCN1B功能性无义突变。
期刊:Journal of Neuroscience
影响因子:4
doi:10.1523/JNEUROSCI.2475-09.2009
Patino, Gustavo A; Claes, Lieve R F; Lopez-Santiago, Luis F; Slat, Emily A; Dondeti, Raja S R; Chen, Chunling; O'Malley, Heather A; Gray, Charles B B; Miyazaki, Haruko; Nukina, Nobuyuki; Oyama, Fumitaka; De Jonghe, Peter; Isom, Lori L