The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Lisbeth Tranebjærg*, Nicola Strenzke, Sture Lindholm, Nanna D. Rendtorff, Hanne Poulsen, Himanshu Khandelia, Wojciech Kopec, Troels J.Brünnich Lyngbye, Christian Hamel, Cecile Delettre, Beatrice Bocquet, Michael Bille, Hanne H. Owen, Toke Bek, Hanne Jensen, Karen Østergaard, Claes Möller, Linda Luxon, Lucinda Carr, Louise WilsonKaukab Rajput, Tony Sirimanna, Katherine Harrop-Griffiths, Shamima Rahman, Barbara Vona, Julia Doll, Thomas Haaf, Oliver Bartsch, Hendrik Rosewich, Tobias Moser, Maria Bitner-Glindzicz

*Corresponding author af dette arbejde
13 Citationer (Scopus)

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Neuroscience

Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology