Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. [electronic resource]
Producer: 20170515Description: 993-1000 p. digitalISSN:- 1537-6605
- Amino Acid Sequence
- Electron Transport -- genetics
- Female
- Genes, Recessive -- genetics
- Humans
- Infant, Newborn
- Male
- Methyltransferases -- genetics
- Mitochondria -- metabolism
- Mitochondrial Diseases -- etiology
- Mutation -- genetics
- Pedigree
- Protein Biosynthesis -- physiology
- RNA -- genetics
- RNA Processing, Post-Transcriptional -- genetics
- RNA, Mitochondrial
- RNA, Transfer -- genetics
- Ribonuclease P -- genetics
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article
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