| 000 | 01817 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250515033052.0 | ||
| 264 | 0 | _c20060914 | |
| 008 | 200609s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/506257 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHoffmann, Katrin | |
| 245 | 0 | 0 |
_aEscobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cAug 2006 |
||
| 300 |
_a303-12 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aArthrogryposis _xembryology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMyasthenic Syndromes, Congenital _xembryology |
| 650 | 0 | 4 |
_aNeuromuscular Junction _xembryology |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aProtein Subunits _xgenetics |
| 650 | 0 | 4 |
_aReceptors, Cholinergic _xgenetics |
| 700 | 1 | _aMuller, Juliane S | |
| 700 | 1 | _aStricker, Sigmar | |
| 700 | 1 | _aMegarbane, Andre | |
| 700 | 1 | _aRajab, Anna | |
| 700 | 1 | _aLindner, Tom H | |
| 700 | 1 | _aCohen, Monika | |
| 700 | 1 | _aChouery, Eliane | |
| 700 | 1 | _aAdaimy, Lynn | |
| 700 | 1 | _aGhanem, Ismat | |
| 700 | 1 | _aDelague, Valerie | |
| 700 | 1 | _aBoltshauser, Eugen | |
| 700 | 1 | _aTalim, Beril | |
| 700 | 1 | _aHorvath, Rita | |
| 700 | 1 | _aRobinson, Peter N | |
| 700 | 1 | _aLochmüller, Hanns | |
| 700 | 1 | _aHübner, Christoph | |
| 700 | 1 | _aMundlos, Stefan | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 79 _gno. 2 _gp. 303-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/506257 _zAvailable from publisher's website |
| 999 |
_c16418218 _d16418218 |
||