Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. [electronic resource]
Producer: 20000512Description: 125-30 p. digitalISSN:- 0009-9163
- Adolescent
- Adult
- Amino Acid Sequence
- Cation Transport Proteins
- DNA Mutational Analysis
- DNA-Binding Proteins
- ERG1 Potassium Channel
- Ether-A-Go-Go Potassium Channels
- Fatal Outcome
- Female
- Humans
- Long QT Syndrome -- diagnosis
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Phenotype
- Potassium Channels -- genetics
- Potassium Channels, Voltage-Gated
- Sequence Homology, Amino Acid
- Trans-Activators
- Transcriptional Regulator ERG
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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