Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. [electronic resource]
Producer: 20120823Description: 1079-87 p. digitalISSN:- 1537-6605
- Acidosis, Lactic -- genetics
- Base Sequence
- Cardiomyopathy, Hypertrophic -- genetics
- Carrier Proteins -- genetics
- DNA Mutational Analysis
- DNA, Mitochondrial -- genetics
- Fibroblasts -- metabolism
- Homozygote
- Humans
- Mitochondria -- metabolism
- Molecular Sequence Data
- Mothers
- Mutation
- Mutation, Missense
- Nucleic Acid Conformation
- Oxidative Phosphorylation
- Paromomycin -- pharmacology
- Phenotype
- Phosphorylation
- RNA, Ribosomal -- metabolism
- RNA, Transfer -- genetics
- RNA-Binding Proteins
- Respiration
- Saccharomyces cerevisiae -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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