| 000 | 01831 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516164745.0 | ||
| 264 | 0 | _c20141118 | |
| 008 | 201411s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2013.190 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYlikallio, Emil | |
| 245 | 0 | 0 |
_aTargeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cApr 2014 |
||
| 300 |
_a522-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAxons |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFinland |
| 650 | 0 | 4 | _aGenetic Heterogeneity |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenome-Wide Association Study |
| 650 | 0 | 4 |
_aHSP27 Heat-Shock Proteins _xgenetics |
| 650 | 0 | 4 | _aHeat-Shock Proteins |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Chaperones |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aJohari, Mridul | |
| 700 | 1 | _aKonovalova, Svetlana | |
| 700 | 1 | _aMoilanen, Jukka S | |
| 700 | 1 | _aKiuru-Enari, Sari | |
| 700 | 1 | _aAuranen, Mari | |
| 700 | 1 | _aPajunen, Leila | |
| 700 | 1 | _aTyynismaa, Henna | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 22 _gno. 4 _gp. 522-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2013.190 _zAvailable from publisher's website |
| 999 |
_c23021118 _d23021118 |
||