Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. [electronic resource]
Producer: 20200713Description: 6023-6034 p. digitalISSN:- 1091-6490
- Adolescent
- Animals
- Animals, Newborn
- Cell Line
- Cerebellum -- cytology
- Chlorzoxazone -- administration & dosage
- DNA Mutational Analysis
- Dependovirus -- genetics
- Disease Models, Animal
- Female
- Gene Knockdown Techniques
- Genetic Vectors -- genetics
- Humans
- Large-Conductance Calcium-Activated Potassium Channel alpha Subunits -- antagonists & inhibitors
- Loss of Function Mutation
- Mice
- Mitochondria -- pathology
- Oocytes
- Rats
- Recombinant Proteins -- genetics
- Spinocerebellar Degenerations -- diagnosis
- Transfection
- Exome Sequencing
- Xenopus
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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