| 000 | 01539 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250513145611.0 | ||
| 264 | 0 | _c19980804 | |
| 008 | 199808s 0 0 eng d | ||
| 022 | _a0077-8923 | ||
| 024 | 7 |
_a10.1111/j.1749-6632.1998.tb10926.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOhno, K | |
| 245 | 0 | 0 |
_aFrameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes. _h[electronic resource] |
| 260 |
_bAnnals of the New York Academy of Sciences _cMay 1998 |
||
| 300 |
_a189-94 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlternative Splicing |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMacromolecular Substances |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 |
_aMyasthenia Gravis _xcongenital |
| 650 | 0 | 4 | _aNuclear Family |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 |
_aReceptors, Cholinergic _xdeficiency |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aTurkey |
| 700 | 1 | _aAnlar, B | |
| 700 | 1 | _aOzdirim, E | |
| 700 | 1 | _aBrengman, J M | |
| 700 | 1 | _aEngel, A G | |
| 773 | 0 |
_tAnnals of the New York Academy of Sciences _gvol. 841 _gp. 189-94 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1749-6632.1998.tb10926.x _zAvailable from publisher's website |
| 999 |
_c9634209 _d9634209 |
||