| 000 | 02570 a2200817 4500 | ||
|---|---|---|---|
| 005 | 20250517193629.0 | ||
| 264 | 0 | _c20190326 | |
| 008 | 201903s 0 0 eng d | ||
| 022 | _a1432-1203 | ||
| 024 | 7 |
_a10.1007/s00439-017-1862-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTranebjærg, Lisbeth | |
| 245 | 0 | 0 |
_aThe CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. _h[electronic resource] |
| 260 |
_bHuman genetics _cFeb 2018 |
||
| 300 |
_a111-127 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCerebellar Ataxia _xepidemiology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDenmark _xepidemiology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFoot Deformities, Congenital _xepidemiology |
| 650 | 0 | 4 |
_aGermany _xepidemiology |
| 650 | 0 | 4 |
_aHearing Loss, Central _xepidemiology |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xepidemiology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Dynamics Simulation |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aOptic Atrophy _xepidemiology |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aReflex, Abnormal _xgenetics |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_aSodium-Potassium-Exchanging ATPase _xchemistry |
| 650 | 0 | 4 |
_aSweden _xepidemiology |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aStrenzke, Nicola | |
| 700 | 1 | _aLindholm, Sture | |
| 700 | 1 | _aRendtorff, Nanna D | |
| 700 | 1 | _aPoulsen, Hanne | |
| 700 | 1 | _aKhandelia, Himanshu | |
| 700 | 1 | _aKopec, Wojciech | |
| 700 | 1 | _aLyngbye, Troels J Brünnich | |
| 700 | 1 | _aHamel, Christian | |
| 700 | 1 | _aDelettre, Cecile | |
| 700 | 1 | _aBocquet, Beatrice | |
| 700 | 1 | _aBille, Michael | |
| 700 | 1 | _aOwen, Hanne H | |
| 700 | 1 | _aBek, Toke | |
| 700 | 1 | _aJensen, Hanne | |
| 700 | 1 | _aØstergaard, Karen | |
| 700 | 1 | _aMöller, Claes | |
| 700 | 1 | _aLuxon, Linda | |
| 700 | 1 | _aCarr, Lucinda | |
| 700 | 1 | _aWilson, Louise | |
| 700 | 1 | _aRajput, Kaukab | |
| 700 | 1 | _aSirimanna, Tony | |
| 700 | 1 | _aHarrop-Griffiths, Katherine | |
| 700 | 1 | _aRahman, Shamima | |
| 700 | 1 | _aVona, Barbara | |
| 700 | 1 | _aDoll, Julia | |
| 700 | 1 | _aHaaf, Thomas | |
| 700 | 1 | _aBartsch, Oliver | |
| 700 | 1 | _aRosewich, Hendrik | |
| 700 | 1 | _aMoser, Tobias | |
| 700 | 1 | _aBitner-Glindzicz, Maria | |
| 773 | 0 |
_tHuman genetics _gvol. 137 _gno. 2 _gp. 111-127 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00439-017-1862-z _zAvailable from publisher's website |
| 999 |
_c27952453 _d27952453 |
||