Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
STXBP5L基因的纯合突变可导致一种常染色体隐性遗传的婴儿期发病神经退行性疾病。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddu614
Kumar, Raman; Corbett, Mark A; Smith, Nicholas J C; Jolly, Lachlan A; Tan, Chuan; Keating, Damien J; Duffield, Michael D; Utsumi, Toshihiko; Moriya, Koko; Smith, Katherine R; Hoischen, Alexander; Abbott, Kim; Harbord, Michael G; Compton, Alison G; Woenig, Joshua A; Arts, Peer; Kwint, Michael; Wieskamp, Nienke; Gijsen, Sabine; Veltman, Joris A; Bahlo, Melanie; Gleeson, Joseph G; Haan, Eric; Gecz, Jozef
