βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy
βIV 型影隐球蛋白病可导致严重智力障碍、先天性肌张力低下和运动轴突神经病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.04.012
Chih-Chuan Wang, Xilma R Ortiz-González, Sabrina W Yum, Sara M Gill, Amy White, Erin Kelter, Laurie H Seaver, Sansan Lee, Graham Wiley, Patrick M Gaffney, Klaas J Wierenga, Matthew N Rasband