A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. [electronic resource]
Producer: 20090504Description: 147-50 p. digitalISSN:- 0960-8966
- Acidosis, Lactic -- genetics
- Acute Kidney Injury -- genetics
- Cell Cycle Proteins -- genetics
- DNA Mutational Analysis
- DNA, Mitochondrial -- genetics
- Deoxyribonucleotides -- biosynthesis
- Down-Regulation
- Fatal Outcome
- Genetic Markers -- genetics
- Genetic Predisposition to Disease -- genetics
- Homozygote
- Humans
- Infant
- Male
- Mitochondrial Diseases -- genetics
- Muscle Fibers, Skeletal -- metabolism
- Muscle Hypotonia -- genetics
- Muscle, Skeletal -- metabolism
- Muscular Diseases -- genetics
- Mutation, Missense -- genetics
- Ribonucleotide Reductases -- genetics
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article
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