| 000 | 01206 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250516230014.0 | ||
| 264 | 0 | _c20150612 | |
| 008 | 201506s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2014.08.003 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aIzumi, Kosuke | |
| 245 | 0 | 0 |
_aNKX2.5 mutation identification on exome sequencing in a patient with heterotaxy. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cOct 2014 |
||
| 300 |
_a558-61 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 |
_aHeterotaxy Syndrome _xgenetics |
| 650 | 0 | 4 | _aHomeobox Protein Nkx-2.5 |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aNoon, Sarah | |
| 700 | 1 | _aWilkens, Alisha | |
| 700 | 1 | _aKrantz, Ian D | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 57 _gno. 10 _gp. 558-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2014.08.003 _zAvailable from publisher's website |
| 999 |
_c24093241 _d24093241 |
||