The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018)

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Published in:Human genetics 2018-03, Vol.137 (3), p.279
Main Authors: Tranebjaerg, Lisbeth, Strenzke, Nicola, Lindholm, Sture, Rendtorff, Nanna D., Poulsen, Hanne, Khandelia, Himanshu, Kopec, Wojciech, Lyngbye, Troels J. Brunnich, Hamel, Christian, Delettre, Cecile, Bocquet, Beatrice, Bille, Michael, Owen, Hanne H., Bek, Toke, Jensen, Hanne, Østergaard, Karen, Möller, Claes, Luxon, Linda, Carr, Lucinda, Wilson, Louise, Rajput, Kaukab, Sirimanna, Tony, Harrop-Griffiths, Katherine, Rahman, Shamima, Vona, Barbara, Doll, Julia, Haaf, Thomas, Bartsch, Oliver, Rosewich, Hendrik, Moser, Tobias, Bitner-Glindzicz, Maria
Format: Article
Language:English
Online Access:Get full text
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ISSN:1432-1203
0340-6717
DOI:10.1007/s00439-018-1870-7