000 | 01293 a2200373 4500 | ||
---|---|---|---|
005 | 20250515071154.0 | ||
264 | 0 | _c20071128 | |
008 | 200711s 0 0 eng d | ||
022 | _a0885-3185 | ||
024 | 7 |
_a10.1002/mds.21574 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aForsyth, Rob J | |
245 | 0 | 0 |
_aA novel GLRA1 mutation in a recessive hyperekplexia pedigree. _h[electronic resource] |
260 |
_bMovement disorders : official journal of the Movement Disorder Society _cAug 2007 |
||
300 |
_a1643-5 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aCysteine _xgenetics |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMovement Disorders _xgenetics |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aReceptors, Glycine _xgenetics |
650 | 0 | 4 |
_aReflex, Startle _xgenetics |
650 | 0 | 4 |
_aTyrosine _xgenetics |
700 | 1 | _aGika, Artemis D | |
700 | 1 | _aGinjaar, Ieke | |
700 | 1 | _aTijssen, Marina A J | |
773 | 0 |
_tMovement disorders : official journal of the Movement Disorder Society _gvol. 22 _gno. 11 _gp. 1643-5 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/mds.21574 _zAvailable from publisher's website |
999 |
_c17075081 _d17075081 |