Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
患有双等位基因 NFASC 突变且缺乏全长 NF186 的患者出现共济失调
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2019.00896
Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, Mohsen Moslem, Nicole Breeuwsma, Loora Laan, Jens Schuster, Zhe Jin, Daniel Nilsson, Agne Lieden, Britt-Marie Anderlid, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Bryndis Birnir, Niklas Dahl, Ann Nordgren, Anna Lindstrand, Anna Falk