Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. [electronic resource]
Producer: 20140616Description: 1623-7 p. digitalISSN:- 1098-1004
- Amino Acid Sequence
- DNA Mutational Analysis
- Exome
- Female
- Genetic Association Studies
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Intellectual Disability -- genetics
- Lennox Gastaut Syndrome
- Molecular Sequence Data
- Mutation
- NADH Dehydrogenase -- chemistry
- Sequence Alignment
- Spasms, Infantile -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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