| 000 | 01884 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250516071938.0 | ||
| 264 | 0 | _c20120824 | |
| 008 | 201208s 0 0 eng d | ||
| 022 | _a1432-1203 | ||
| 024 | 7 |
_a10.1007/s00439-011-1132-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMaselli, Ricardo A | |
| 245 | 0 | 0 |
_aLG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. _h[electronic resource] |
| 260 |
_bHuman genetics _cJul 2012 |
||
| 300 |
_a1123-35 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcetylcholinesterase _xmetabolism |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAgrin _xchemistry |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aDystroglycans _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 |
_aMuscle Fibers, Skeletal _xmetabolism |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aMyasthenic Syndromes, Congenital _xgenetics |
| 650 | 0 | 4 |
_aNeuromuscular Junction _xmetabolism |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aReceptors, Cholinergic _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aFernandez, Jose M | |
| 700 | 1 | _aArredondo, Juan | |
| 700 | 1 | _aNavarro, Carmen | |
| 700 | 1 | _aNgo, Maian | |
| 700 | 1 | _aBeeson, David | |
| 700 | 1 | _aCagney, Orla | |
| 700 | 1 | _aWilliams, D Colette | |
| 700 | 1 | _aWollmann, Robert L | |
| 700 | 1 | _aYarov-Yarovoy, Vladimir | |
| 700 | 1 | _aFerns, Michael J | |
| 773 | 0 |
_tHuman genetics _gvol. 131 _gno. 7 _gp. 1123-35 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00439-011-1132-4 _zAvailable from publisher's website |
| 999 |
_c21424580 _d21424580 |
||