A novel homozygous mutation of DARS2 may cause a severe LBSL variant
DARS2 的新型纯合突变可能导致严重的 LBSL 变异
期刊:Clinical Genetics
影响因子:2.9
doi:10.1111/j.1399-0004.2011.01644.x
N Miyake, S Yamashita, K Kurosawa, S Miyatake, Y Tsurusaki, H Doi, H Saitsu, N Matsumoto