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

Tranebjærg, L; Strenzke, N; Lindholm, S; Rendtorff, ND; Poulsen, H; Khandelia, H; Kopec, W; ... Bitner-Glindzicz, M; + view all Tranebjærg, L; Strenzke, N; Lindholm, S; Rendtorff, ND; Poulsen, H; Khandelia, H; Kopec, W; Lyngbye, TJB; Hamel, C; Delettre, C; Bocquet, B; Bille, M; Owen, HH; Bek, T; Jensen, H; Østergaard, K; Möller, C; Luxon, L; Carr, L; Wilson, L; Rajput, K; Sirimanna, T; Harrop-Griffiths, K; Rahman, S; Vona, B; Doll, J; Haaf, T; Bartsch, O; Rosewich, H; Moser, T; Bitner-Glindzicz, M; - view fewer (2018) The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Human Genetics , 137 (2) pp. 111-127. 10.1007/s00439-017-1862-z .

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