000 | 02701 a2200901 4500 | ||
---|---|---|---|
005 | 20250516103700.0 | ||
264 | 0 | _c20121119 | |
008 | 201211s 0 0 eng d | ||
022 | _a1546-1718 | ||
024 | 7 |
_a10.1038/ng.2358 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHeinzen, Erin L | |
245 | 0 | 0 |
_aDe novo mutations in ATP1A3 cause alternating hemiplegia of childhood. _h[electronic resource] |
260 |
_bNature genetics _cSep 2012 |
||
300 |
_a1030-4 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 | _aCOS Cells |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChlorocebus aethiops |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Predisposition to Disease |
650 | 0 | 4 | _aHeLa Cells |
650 | 0 | 4 |
_aHemiplegia _xgenetics |
650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aModels, Biological |
650 | 0 | 4 |
_aMutation _xphysiology |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aProtein Structure, Secondary |
650 | 0 | 4 |
_aSodium-Potassium-Exchanging ATPase _xchemistry |
700 | 1 | _aSwoboda, Kathryn J | |
700 | 1 | _aHitomi, Yuki | |
700 | 1 | _aGurrieri, Fiorella | |
700 | 1 | _aNicole, Sophie | |
700 | 1 | _ade Vries, Boukje | |
700 | 1 | _aTiziano, F Danilo | |
700 | 1 | _aFontaine, Bertrand | |
700 | 1 | _aWalley, Nicole M | |
700 | 1 | _aHeavin, Sinéad | |
700 | 1 | _aPanagiotakaki, Eleni | |
700 | 1 | _aFiori, Stefania | |
700 | 1 | _aAbiusi, Emanuela | |
700 | 1 | _aDi Pietro, Lorena | |
700 | 1 | _aSweney, Matthew T | |
700 | 1 | _aNewcomb, Tara M | |
700 | 1 | _aViollet, Louis | |
700 | 1 | _aHuff, Chad | |
700 | 1 | _aJorde, Lynn B | |
700 | 1 | _aReyna, Sandra P | |
700 | 1 | _aMurphy, Kelley J | |
700 | 1 | _aShianna, Kevin V | |
700 | 1 | _aGumbs, Curtis E | |
700 | 1 | _aLittle, Latasha | |
700 | 1 | _aSilver, Kenneth | |
700 | 1 | _aPtáček, Louis J | |
700 | 1 | _aHaan, Joost | |
700 | 1 | _aFerrari, Michel D | |
700 | 1 | _aBye, Ann M | |
700 | 1 | _aHerkes, Geoffrey K | |
700 | 1 | _aWhitelaw, Charlotte M | |
700 | 1 | _aWebb, David | |
700 | 1 | _aLynch, Bryan J | |
700 | 1 | _aUldall, Peter | |
700 | 1 | _aKing, Mary D | |
700 | 1 | _aScheffer, Ingrid E | |
700 | 1 | _aNeri, Giovanni | |
700 | 1 | _aArzimanoglou, Alexis | |
700 | 1 | _avan den Maagdenberg, Arn M J M | |
700 | 1 | _aSisodiya, Sanjay M | |
700 | 1 | _aMikati, Mohamad A | |
700 | 1 | _aGoldstein, David B | |
773 | 0 |
_tNature genetics _gvol. 44 _gno. 9 _gp. 1030-4 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.2358 _zAvailable from publisher's website |
999 |
_c21982575 _d21982575 |