Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
DSTYK 中的大型基因内缺失是常染色体隐性复杂性痉挛性截瘫 SPG23 的病因
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.01.014
John Y W Lee, Chao-Kai Hsu, Magdalene Michael, Arti Nanda, Lu Liu, James R McMillan, Celine Pourreyron, Takuya Takeichi, Jakub Tolar, Evan Reid, Thomas Hayday, Sergiu C Blumen, Saif Abu-Mouch, Rachel Straussberg, Lina Basel-Vanagaite, Yael Barhum, Yasmin Zouabi, Hejab Al-Ajmi, Hsin-Yu Huang, Ting-Ch