| 000 | 01235 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250517234931.0 | ||
| 264 | 0 | _c20191114 | |
| 008 | 201911s 0 0 eng d | ||
| 022 | _a1435-1463 | ||
| 024 | 7 |
_a10.1007/s00702-018-1924-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMilenkovic, Ivan | |
| 245 | 0 | 0 |
_aA novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia. _h[electronic resource] |
| 260 |
_bJournal of neural transmission (Vienna, Austria : 1996) _c12 2018 |
||
| 300 |
_a1877-1883 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperekplexia _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aReceptors, Glycine _xgenetics |
| 650 | 0 | 4 |
_aReflex, Startle _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aZimprich, Alexander | |
| 700 | 1 | _aGencik, Martin | |
| 700 | 1 | _aPlatho-Elwischger, Kirsten | |
| 700 | 1 | _aSeidel, Stefan | |
| 773 | 0 |
_tJournal of neural transmission (Vienna, Austria : 1996) _gvol. 125 _gno. 12 _gp. 1877-1883 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00702-018-1924-y _zAvailable from publisher's website |
| 999 |
_c28803118 _d28803118 |
||