| 000 | 01641 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517195502.0 | ||
| 264 | 0 | _c20191028 | |
| 008 | 201910s 0 0 eng d | ||
| 022 | _a2379-3708 | ||
| 024 | 7 |
_a10.1172/jci.insight.97826 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aShen, Xin-Ming | |
| 245 | 0 | 0 |
_aMutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit. _h[electronic resource] |
| 260 |
_bJCI insight _c01 2018 |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aArginine _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEvoked Potentials, Motor _xphysiology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlutamic Acid _xgenetics |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xpathology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyasthenic Syndromes, Congenital _xgenetics |
| 650 | 0 | 4 | _aPatch-Clamp Techniques |
| 650 | 0 | 4 |
_aReceptors, Nicotinic _xgenetics |
| 650 | 0 | 4 |
_aRecombinant Proteins _xgenetics |
| 700 | 1 | _aBrengman, Joan M | |
| 700 | 1 | _aShen, Shelley | |
| 700 | 1 | _aDurmus, Hacer | |
| 700 | 1 | _aPreethish-Kumar, Veeramani | |
| 700 | 1 | _aYuceyar, Nur | |
| 700 | 1 | _aVengalil, Seena | |
| 700 | 1 | _aNalini, Atchayaram | |
| 700 | 1 | _aDeymeer, Feza | |
| 700 | 1 | _aSine, Steven M | |
| 700 | 1 | _aEngel, Andrew G | |
| 773 | 0 |
_tJCI insight _gvol. 3 _gno. 2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1172/jci.insight.97826 _zAvailable from publisher's website |
| 999 |
_c28011726 _d28011726 |
||