BiophysicsThe FASEB JournalPeer-reviewed
Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.
Dania Zuniga, Andreas Zoumpoulakis, Rafael F. Veloso…·Catherine Vénien‐Bryan
This study investigates two Kir2.1 mutants linked to Andersen-Tawil syndrome, showing they impair channel function through distinct mechanisms, with C154Y causing dominant-negative effects.
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