文章基本信息
- 标题：Suspicion of mitochondrial disease remains frequently unconfirmed after whole exome sequencing
- 本地全文：下载
- 作者：Josef Finsterer ; Sinda Zarrouk-Mahjoub
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2018
- 卷号：16
- 页码：66
- DOI：10.1016/j.ymgmr.2018.07.005
- 出版社：Elsevier B.V.
- 关键词：Mitochondrial ; mtDNA depletion ; Whole exome sequencing ; Phenotype ; Genotype ; multisystem disease ; lactic acidosis
