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Autor:
Patrick A. Schweizer, Hugo A. Katus, Dierk Thomas, Mascha Koenen, Benjamin Meder, Jan Haas, Michael Koenen, Guido Gessner, Sarah Runge, Stefan H. Heinemann
Publikováno v:
Biochemical and Biophysical Research Communications
Pathogenic long QT mutations often comprise high phenotypic variability and particularly variants in ANK2 (long QT syndrome 4) frequently lack QT prolongation. We sought to elucidate the genetic and functional background underlying the clinical diver