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The 30 top-ranking genes for mitochondrial complex I deficiency.

NIAID Data Ecosystem2026-03-09 收录

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资源简介：

The 30 top-ranking genes for mitochondrial complex I deficiency.

应用场景：

创建时间：

2016-02-23

线粒体疾病遗传

氧化磷酸化缺陷

Mitochondrial diseases constitute a group of heterogeneous hereditary diseases caused by impairments in mitochondrial oxidative phosphorylation and abnormal cellular energy metabolism. C1QBP plays an

NIAID Data Ecosystem50

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40

Table_1_The Dimensions of Primary Mitochondrial Disorders.XLSX

线粒体疾病遗传

遗传学

The concept of a mitochondrial disorder was initially described in 1962, in a patient with altered energy metabolism. Over time, mitochondrial energy metabolism has been discovered to be influenced by

NIAID Data Ecosystem40

Table_2_Leigh Syndrome: A Tale of Two Genomes.docx

Leigh综合征

线粒体疾病遗传

Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The heterogeneous nature of th

NIAID Data Ecosystem40

Additional file 9 of Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome

线粒体疾病遗传

基因组测序

Additional file 9.

DataCite Commons2024-11-13 更新40