文章基本信息
- 标题：Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing
- 本地全文：下载
- 作者：Nataniel Floriano Ludwig ; Fernanda Sperb-Ludwig ; Renata Voltolini Velho 等
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2017
- 卷号：11
- 页码：92-93
- DOI：10.1016/j.ymgmr.2017.02.002
- 出版社：Elsevier B.V.
- 关键词：Mucolipidosis III gamma ; Next-generation sequencing ; De novo alteration
