| 000 | 01439 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516092901.0 | ||
| 264 | 0 | _c20120822 | |
| 008 | 201208s 0 0 eng d | ||
| 022 | _a1469-1809 | ||
| 024 | 7 |
_a10.1111/j.1469-1809.2012.00710.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKrabichler, Birgit | |
| 245 | 0 | 0 |
_aNovel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. _h[electronic resource] |
| 260 |
_bAnnals of human genetics _cJul 2012 |
||
| 300 |
_a326-31 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 7 |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aMyoclonic Epilepsies, Progressive _xgenetics |
| 650 | 0 | 4 |
_aPotassium Channels _xgenetics |
| 700 | 1 | _aRostasy, Kevin | |
| 700 | 1 | _aBaumann, Matthias | |
| 700 | 1 | _aKarall, Daniela | |
| 700 | 1 | _aScholl-Bürgi, Sabine | |
| 700 | 1 | _aSchwarzer, Christoph | |
| 700 | 1 | _aGautsch, Kurt | |
| 700 | 1 | _aSpreiz, Ana | |
| 700 | 1 | _aKotzot, Dieter | |
| 700 | 1 | _aZschocke, Johannes | |
| 700 | 1 | _aFauth, Christine | |
| 700 | 1 | _aHaberlandt, Edda | |
| 773 | 0 |
_tAnnals of human genetics _gvol. 76 _gno. 4 _gp. 326-31 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1469-1809.2012.00710.x _zAvailable from publisher's website |
| 999 |
_c21792462 _d21792462 |
||