| 000 | 01634 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517143316.0 | ||
| 264 | 0 | _c20170912 | |
| 008 | 201709s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2017.22 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLahrouchi, Najim | |
| 245 | 0 | 0 |
_aExome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c06 2017 |
||
| 300 |
_a783-787 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCardiomyopathies _xdiagnosis |
| 650 | 0 | 4 |
_aCarnitine _xblood |
| 650 | 0 | 4 |
_aCodon, Terminator _xgenetics |
| 650 | 0 | 4 | _aDeath, Sudden |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOrganic Cation Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSolute Carrier Family 22 Member 5 |
| 700 | 1 | _aLodder, Elisabeth M | |
| 700 | 1 | _aMansouri, Maria | |
| 700 | 1 | _aTadros, Rafik | |
| 700 | 1 | _aZniber, Layla | |
| 700 | 1 | _aAdadi, Najlae | |
| 700 | 1 | _aClur, Sally-Ann B | |
| 700 | 1 | _avan Spaendonck-Zwarts, Karin Y | |
| 700 | 1 | _aPostma, Alex V | |
| 700 | 1 | _aSefiani, Abdelaziz | |
| 700 | 1 | _aRatbi, Ilham | |
| 700 | 1 | _aBezzina, Connie R | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 6 _gp. 783-787 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2017.22 _zAvailable from publisher's website |
| 999 |
_c26969933 _d26969933 |
||