| 000 | 01604 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516051337.0 | ||
| 264 | 0 | _c20111010 | |
| 008 | 201110s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2011.07.002 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWeedon, Michael N | |
| 245 | 0 | 0 |
_aExome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cAug 2011 |
||
| 300 |
_a308-12 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aAxons _xpathology |
| 650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCytoplasmic Dyneins _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Dominant _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aHastings, Robert | |
| 700 | 1 | _aCaswell, Richard | |
| 700 | 1 | _aXie, Weijia | |
| 700 | 1 | _aPaszkiewicz, Konrad | |
| 700 | 1 | _aAntoniadi, Thalia | |
| 700 | 1 | _aWilliams, Maggie | |
| 700 | 1 | _aKing, Cath | |
| 700 | 1 | _aGreenhalgh, Lynn | |
| 700 | 1 | _aNewbury-Ecob, Ruth | |
| 700 | 1 | _aEllard, Sian | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 89 _gno. 2 _gp. 308-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2011.07.002 _zAvailable from publisher's website |
| 999 |
_c21065037 _d21065037 |
||