Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. [electronic resource]
Producer: 20141103Description: e106-11 p. digitalISSN:- 1528-1167
- Adolescent
- Ataxia -- complications
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 7 -- genetics
- Cysteine -- genetics
- Electroencephalography
- Exome -- genetics
- Female
- Genetic Linkage
- Humans
- Infant
- Male
- Mutation -- genetics
- Myoclonic Epilepsies, Progressive -- complications
- Potassium Channels -- genetics
- Tyrosine -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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