The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management-Reference-Cited by-同舟云学术

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

Published:2018-01-05 Issue:2 Volume:137 Page:111-127
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Tranebjærg Lisbeth,Strenzke Nicola,Lindholm Sture,Rendtorff Nanna D.,Poulsen Hanne,Khandelia Himanshu,Kopec Wojciech,Lyngbye Troels J. Brünnich,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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-017-1862-z/fulltext.html

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