首页/数据集/4be8f18a-3a65-4c10-92b9-efa8a9121fb4 - samples

4be8f18a-3a65-4c10-92b9-efa8a9121fb4 - samples

NIAID Data Ecosystem2026-03-13 收录

线粒体疾病遗传

肌肉组织基因组学

数据链接：

https://www.omicsdi.org/dataset/ega/EGAD00001006079 数据链接链接失效反馈

官方服务：

资源简介：

The dataset comprises of muscle samples from three patients with mitochondrial disease: Patient 1, age9; Patient 2, age16; and Patient 3, age 58.EGA dataset EGAD00001006079

应用场景：

创建时间：

2022-02-21

线粒体疾病遗传

氧化还原平衡

Mitochondrial disorders are associated with decreased energy production and redox imbalance. Glutathione plays a central role in redox signaling and protecting cells from oxidative damage. In order to

DataONE2014-06-24 更新170

Blood m.3243A>G levels in a cohort of mitochondrial disease patients

线粒体疾病遗传

致病性mtDNA突变负荷

Both files contained in this dataset contain measurements of the level of the pathogenic mtDNA variant m.3243A>G within blood. These are raw data values, not corrected for age. 1. longitudinal_32

NIAID Data Ecosystem50

The development of mitochondrial medicine.

线粒体疾病遗传

线粒体医学

Primary defects in mitochondrial function are implicated in over 100 diseases, and the list continues to grow. Yet the first mitochondrial defect--a myopathy--was demonstrated only 35 years ago. The f

PubMed Central1994-09-13 更新20

Disease-associated mitochondrial mutations and the evolution of primate mitogenomes

线粒体疾病遗传

灵长类基因组

Several human diseases have been associated with mutations in mitochondrial genes comprising a set of confirmed and reported mutations according to the MITOMAP database. An analysis of complete mitoge

Figshare2017-05-17 更新70

The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.

遗传变异分析

线粒体疾病遗传

In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-

NIAID Data Ecosystem20

4be8f18a-3a65-4c10-92b9-efa8a9121fb4 - samples

资源简介：

相关数据集