Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene
尽管母亲的葡糖脑苷脂酶基因正常,但婴儿仍患有2型戈谢病。
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.38487
Hagege, Ermias; Grey, Richard J; Lopez, Grisel; Roshan Lal, Tamanna; Sidransky, Ellen; Tayebi, Nahid