Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. [electronic resource]
Producer: 20130327Description: 389-93 p. digitalISSN:- 1096-7206
- Child
- DNA, Mitochondrial -- analysis
- Female
- Gene Expression
- Genetic Heterogeneity
- Genome, Mitochondrial
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Leigh Disease -- genetics
- Male
- Mitochondria -- genetics
- Mitochondrial Myopathies -- genetics
- Mitochondrial Proton-Translocating ATPases -- genetics
- Mutation
- Pedigree
- Retinitis Pigmentosa -- genetics
- Severity of Illness Index
- Young Adult
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Publication Type: Case Reports; Journal Article
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