Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
进行性肌阵挛性癫痫伴早期共济失调与核纤层蛋白基因LMNB2突变有关。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddv171
Damiano, John A; Afawi, Zaid; Bahlo, Melanie; Mauermann, Monika; Misk, Adel; Arsov, Todor; Oliver, Karen L; Dahl, Hans-Henrik M; Shearer, A Eliot; Smith, Richard J H; Hall, Nathan E; Mahmood, Khalid; Leventer, Richard J; Scheffer, Ingrid E; Muona, Mikko; Lehesjoki, Anna-Elina; Korczyn, Amos D; Herrmann, Harald; Berkovic, Samuel F; Hildebrand, Michael S