| 000 | 01786 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516101945.0 | ||
| 264 | 0 | _c20131017 | |
| 008 | 201310s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2012.153 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRoos, Sara | |
| 245 | 0 | 0 |
_aA novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cMay 2013 |
||
| 300 |
_a571-3 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAnticodon _xgenetics |
| 650 | 0 | 4 | _aBase Pairing |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCell Respiration _xphysiology |
| 650 | 0 | 4 |
_aCytochrome-c Oxidase Deficiency _xgenetics |
| 650 | 0 | 4 | _aHistological Techniques |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Encephalomyopathies _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xpathology |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPolymorphism, Restriction Fragment Length |
| 650 | 0 | 4 |
_aRNA, Transfer, Arg _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSweden |
| 700 | 1 | _aDarin, Niklas | |
| 700 | 1 | _aKollberg, Gittan | |
| 700 | 1 | _aAndersson Grönlund, Marita | |
| 700 | 1 | _aTulinius, Mar | |
| 700 | 1 | _aHolme, Elisabeth | |
| 700 | 1 | _aMoslemi, Ali-Reza | |
| 700 | 1 | _aOldfors, Anders | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 21 _gno. 5 _gp. 571-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2012.153 _zAvailable from publisher's website |
| 999 |
_c21932913 _d21932913 |
||