PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy
PLPBP基因突变会导致发育性和癫痫性脑病的不同表型。
期刊:Epilepsia Open
影响因子:2.9
doi:10.1002/epi4.12272
Shiraku, Hiroshi; Nakashima, Mitsuko; Takeshita, Saoko; Khoo, Chai-Soon; Haniffa, Muzhirah; Ch'ng, Gaik-Siew; Takada, Kazuma; Nakajima, Keisuke; Ohta, Masayasu; Okanishi, Tohru; Kanai, Sotaro; Fujimoto, Ayataka; Saitsu, Hirotomo; Matsumoto, Naomichi; Kato, Mitsuhiro