Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. [electronic resource]
Producer: 20100426Description: 923-30 p. digitalISSN:- 1540-8167
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- CHO Cells
- Cell Line
- Child
- Cricetinae
- Cricetulus
- ERG1 Potassium Channel
- Ether-A-Go-Go Potassium Channels -- antagonists & inhibitors
- Female
- Gene Silencing
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation -- genetics
- Pedigree
- Phenotype
- Protein Structure, Tertiary -- genetics
- Protein Transport -- genetics
- Severity of Illness Index
- Young Adult
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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