Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. [electronic resource]
Producer: 20070316Description: 185-93 p. digitalISSN:- 1018-4813
- Alternative Splicing -- genetics
- Cystatin B
- Cystatins -- analysis
- DNA Mutational Analysis
- Female
- Gene Expression
- Homozygote
- Humans
- Male
- Microsatellite Repeats
- Mutation
- Myoclonic Epilepsies, Progressive -- genetics
- Polymerase Chain Reaction -- methods
- Protein Isoforms -- genetics
- RNA, Messenger -- analysis
- Unverricht-Lundborg Syndrome -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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