[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis].
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. — المؤلف: Lan, Xue-Rong — Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20190409
- المؤلف
- Lan, Xue-Rong
- النشر
- Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20190409
- الوصف
- 71-76 p.
- الموضوعات
- Diffusion Tensor Imaging؛ Female؛ Gangliosidosis, GM1؛ Humans؛ Infant؛ Mutation؛ Virulence؛ beta-Galactosidase