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, 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

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DOI
10.1007/s00439-017-1862-z
Published
2018 Feb
Container
Human genetics
Publisher
Not recorded
Open access
no

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BibTeX

@article{allodium:10.1007/s00439-017-1862-z,
  title = {The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.},
  author = {Tranebjærg L and Strenzke N and Lindholm S and Rendtorff ND and Poulsen H and Khandelia H and Kopec W and Lyngbye TJB and Hamel C and Delettre C and Bocquet B and Bille M and Owen HH and Bek T and Jensen H and Østergaard K and Möller C and Luxon L and Carr L and Wilson L and Rajput K and Sirimanna T and Harrop-Griffiths K and Rahman S and Vona B and Doll J and Haaf T and Bartsch O and Rosewich H and Moser T and Bitner-Glindzicz M},
  year = {2018},
  journal = {Human genetics},
  doi = {10.1007/s00439-017-1862-z},
  url = {https://doi.org/10.1007/s00439-017-1862-z}
}

RIS

TY  - JOUR
TI  - The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
AU  - Tranebjærg L
AU  - Strenzke N
AU  - Lindholm S
AU  - Rendtorff ND
AU  - Poulsen H
AU  - Khandelia H
AU  - Kopec W
AU  - Lyngbye TJB
AU  - Hamel C
AU  - Delettre C
AU  - Bocquet B
AU  - Bille M
AU  - Owen HH
AU  - Bek T
AU  - Jensen H
AU  - Østergaard K
AU  - Möller C
AU  - Luxon L
AU  - Carr L
AU  - Wilson L
AU  - Rajput K
AU  - Sirimanna T
AU  - Harrop-Griffiths K
AU  - Rahman S
AU  - Vona B
AU  - Doll J
AU  - Haaf T
AU  - Bartsch O
AU  - Rosewich H
AU  - Moser T
AU  - Bitner-Glindzicz M
PY  - 2018
JO  - Human genetics
DO  - 10.1007/s00439-017-1862-z
UR  - https://doi.org/10.1007/s00439-017-1862-z
ER  -

APA

L, T., N, S., S, L., ND, R., H, P., H, K., W, K., TJB, L., C, H., C, D., B, B., M, B., HH, O., T, B., H, J., K, Ø., C, M., L, L., L, C., L, W., K, R., T, S., K, H., S, R., B, V., J, D., T, H., O, B., H, R., T, M., & M, B. (2018). The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.. Human genetics. https://doi.org/10.1007/s00439-017-1862-z

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