A functional null mutation of SCN1B in a patient with Dravet syndrome. [electronic resource]
Producer: 20090910Description: 10764-78 p. digitalISSN:- 1529-2401
- Animals
- Arginine -- genetics
- Biophysics
- Cell Line, Transformed
- Cysteine -- genetics
- DNA Mutational Analysis
- Disease Models, Animal
- Electric Stimulation
- Epilepsies, Myoclonic -- genetics
- Female
- Green Fluorescent Proteins -- genetics
- Hippocampus -- pathology
- Humans
- In Vitro Techniques
- Infant
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Knockout
- Models, Molecular
- NAV1.1 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins -- deficiency
- Oocytes
- Polymorphism, Single Nucleotide -- genetics
- Sodium Channels -- deficiency
- Temperature
- Transfection
- Twins
- Voltage-Gated Sodium Channel beta-1 Subunit
- Xenopus laevis
No physical items for this record
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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