Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
CCDC78 显性突变导致一种独特的先天性肌病,其特征是内部核突出和非典型核芯。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.06.012
Majczenko, Karen; Davidson, Ann E; Camelo-Piragua, Sandra; Agrawal, Pankaj B; Manfready, Richard A; Li, Xingli; Joshi, Sucheta; Xu, Jishu; Peng, Weiping; Beggs, Alan H; Li, Jun Z; Burmeister, Margit; Dowling, James J