| 000 | 01481 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250517143316.0 | ||
| 264 | 0 | _c20170912 | |
| 008 | 201709s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2017.20 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNazli, Aisha | |
| 245 | 0 | 0 |
_aA mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c06 2017 |
||
| 300 |
_a744-751 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aCell Respiration |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Encephalomyopathies _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Membranes _xmetabolism |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOxygen _xmetabolism |
| 650 | 0 | 4 | _aRNA Splicing |
| 700 | 1 | _aSafdar, Adeel | |
| 700 | 1 | _aSaleem, Ayesha | |
| 700 | 1 | _aAkhtar, Mahmood | |
| 700 | 1 | _aBrady, Lauren I | |
| 700 | 1 | _aSchwartzentruber, Jeremy | |
| 700 | 1 | _aTarnopolsky, Mark A | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 6 _gp. 744-751 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2017.20 _zAvailable from publisher's website |
| 999 |
_c26969929 _d26969929 |
||