Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S
在携带 N370S 突变的 1 型戈谢病杂合子患者中鉴定出新的剪接位点突变 IVS9 + 1(G > A) 和新的复合等位基因 G355R/R359X
期刊:Meta Gene
影响因子:0.8
doi:10.1016/j.mgene.2016.03.003
Hoitsema, Kourtnee; Amato, Dominick; Khan, Aneal; Sirrs, Sandra; Choy, Francis Y M
