A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters. [electronic resource]
Producer: 20030701Description: 4470-8 p. digitalISSN:- 1529-2401
- Amino Acid Substitution
- Animals
- Autonomic Nervous System Diseases -- genetics
- Binding Sites -- physiology
- Binding, Competitive -- physiology
- Blotting, Western
- COS Cells -- metabolism
- Cell Membrane -- metabolism
- Genes, Dominant
- Glycosylation
- Humans
- Mutation
- Norepinephrine Plasma Membrane Transport Proteins
- Posture
- Precipitin Tests
- Protein Binding -- physiology
- Protein Processing, Post-Translational -- genetics
- Protein Transport -- physiology
- Symporters -- genetics
- Transfection
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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