| 000 | 01559 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516135948.0 | ||
| 264 | 0 | _c20131218 | |
| 008 | 201312s 0 0 eng d | ||
| 022 | _a1364-6753 | ||
| 024 | 7 |
_a10.1007/s10048-013-0359-8 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTiffin, Heather R | |
| 245 | 0 | 0 |
_aDysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. _h[electronic resource] |
| 260 |
_bNeurogenetics _cMay 2013 |
||
| 300 |
_a113-21 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aINDEL Mutation _xgenetics |
| 650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
| 650 | 0 | 4 |
_aLIM Domain Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitogen-Activated Protein Kinases _xgenetics |
| 650 | 0 | 4 |
_aMuscle Proteins _xgenetics |
| 650 | 0 | 4 |
_aMuscular Dystrophy, Emery-Dreifuss _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProtein Isoforms _xgenetics |
| 700 | 1 | _aJenkins, Zandra A | |
| 700 | 1 | _aGray, Mary J | |
| 700 | 1 | _aCameron-Christie, Sophia R | |
| 700 | 1 | _aEaton, Jennifer | |
| 700 | 1 | _aAftimos, Salim | |
| 700 | 1 | _aMarkie, David | |
| 700 | 1 | _aRobertson, Stephen P | |
| 773 | 0 |
_tNeurogenetics _gvol. 14 _gno. 2 _gp. 113-21 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10048-013-0359-8 _zAvailable from publisher's website |
| 999 |
_c22549029 _d22549029 |
||