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Data for: Prevalence of Mitochondrial Mutations in UAE Patients with Hearing Loss

NIAID Data Ecosystem2026-03-12 收录

遗传性耳聋基因检测

线粒体疾病遗传

数据链接：

https://data.mendeley.com/datasets/db9cxmxwpt 数据链接链接失效反馈

官方服务：

资源简介：

Raw data for Whole-exome sequencing and Sanger sequencing.

应用场景：

创建时间：

2021-04-26

线粒体疾病遗传

病例对照研究

BackgroundMitochondrial DNA (mtDNA) variation (i.e. haplogroups) has been analyzed in regards to a number of multifactorial diseases. The statistical power of a case-control study determines the a pri

Figshare2016-01-18 更新90

Supplementary Material for: Macrocytosis in Mitochondrial DNA Deletion Syndromes

线粒体疾病遗传

遗传代谢病

Large single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive e

DataCite Commons2023-10-24 更新60

Transcriptome data of mitochondrial dysfunctions

线粒体疾病遗传

转录组学分析

This is a collection of transcriptome data sets related to mitochondrial dysfunctions and their possible treatment. It collects published data sets and re-processes them with a common procedure for th

Figshare2016-01-18 更新30

Laboratory findings of children with mitochondrial disease.

线粒体疾病遗传

实验室诊断

ND = not determined, CSF = cerebrospinal fluid; CPEO = chronic progressive external opthalmoplagia, MELAS = Mitochondrial encephalopathy lactic acidosis and stroke like episodes. Normal range for CSF

NIAID Data Ecosystem80

Novel SLC26A4 variants found in Chinese hearing loss population.

遗传性耳聋基因检测

SLC26A4基因变异分析

FS:frameshift;X:stop codon;del:delete.

Figshare2015-12-02 更新30