| 000 | 01597 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515041251.0 | ||
| 264 | 0 | _c20070209 | |
| 008 | 200702s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.20401 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aIbrahim, El Chérif | |
| 245 | 0 | 0 |
_aWeak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. _h[electronic resource] |
| 260 |
_bHuman mutation _cJan 2007 |
||
| 300 |
_a41-53 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAlternative Splicing _xphysiology |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aCell-Free System _xmetabolism |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aCloning, Molecular |
| 650 | 0 | 4 | _aComputational Biology |
| 650 | 0 | 4 |
_aDysautonomia, Familial _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aOligonucleotides _xmetabolism |
| 650 | 0 | 4 |
_aRNA Polymerase II _xmetabolism |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 | _aTranscriptional Elongation Factors |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _aHims, Matthew M | |
| 700 | 1 | _aShomron, Noam | |
| 700 | 1 | _aBurge, Christopher B | |
| 700 | 1 | _aSlaugenhaupt, Susan A | |
| 700 | 1 | _aReed, Robin | |
| 773 | 0 |
_tHuman mutation _gvol. 28 _gno. 1 _gp. 41-53 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20401 _zAvailable from publisher's website |
| 999 |
_c16547366 _d16547366 |
||