The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients

Eur J Hum Genet. 2019 Aug;27(8):1175-1177. doi: 10.1038/s41431-019-0389-2. Epub 2019 Apr 1.

Authors

Malena P Pantou¹, Polyxeni Gourzi², Dimitrios Degiannis²

Affiliations

¹ Molecular Immunopathology and Histocompatibility Unit, Division of Molecular Genetics, Onassis Cardiac Surgery Center, Kallithea, 17674, Greece. pantou@ocsc.gr.
² Molecular Immunopathology and Histocompatibility Unit, Division of Molecular Genetics, Onassis Cardiac Surgery Center, Kallithea, 17674, Greece.

No abstract available

MeSH terms

Amino Acid Sequence
Gene Expression Profiling / methods
Genome, Human / genetics*
High-Throughput Nucleotide Sequencing / methods
Humans
Long QT Syndrome / diagnosis
Long QT Syndrome / genetics*
Long QT Syndrome / metabolism
Polymorphism, Single Nucleotide*
Potassium Channels, Voltage-Gated / genetics*
Potassium Channels, Voltage-Gated / metabolism
Protein Isoforms / genetics
Protein Isoforms / metabolism
Sequence Homology, Amino Acid

Substances

KCNE1 protein, human
Potassium Channels, Voltage-Gated
Protein Isoforms