TEFM variants impair mitochondrial transcription elongation causing childhood-onset neurological disease
收藏NIAID Data Ecosystem2026-03-14 收录
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资源简介：
We report that TEFM variants are associated with mitochondrial respiratory chain deficiency. We show that patient's cells have reduced levels of promoter distal mitochondrial RNA transcripts. Patient's fibroblasts and muscle samples as well as control samples were analysed by RNA-Seq
创建时间：
2023-03-15
