Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. [electronic resource]
Producer: 20080627Description: 1249-61 p. digitalISSN:- 1537-6605
- Amino Acid Sequence
- Cell Line
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA, Complementary -- genetics
- Electroencephalography
- Epilepsy, Absence -- genetics
- Female
- Genetic Linkage
- Genotype
- Glycosylation
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Phenotype
- Receptors, GABA-A -- chemistry
- Sequence Homology, Amino Acid
- Transfection
- gamma-Aminobutyric Acid -- metabolism
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Publication Type: 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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