| 000 | 01407 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250514214428.0 | ||
| 264 | 0 | _c20050816 | |
| 008 | 200508s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5201363 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBlakely, Emma L | |
| 245 | 0 | 0 |
_aLHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cMay 2005 |
||
| 300 |
_a623-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 |
_aElectron Transport Complex I _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMELAS Syndrome _xcomplications |
| 650 | 0 | 4 |
_aNADH Dehydrogenase _xgenetics |
| 650 | 0 | 4 |
_aOptic Atrophy, Hereditary, Leber _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 700 | 1 | _ade Silva, Rajith | |
| 700 | 1 | _aKing, Andrew | |
| 700 | 1 | _aSchwarzer, Verena | |
| 700 | 1 | _aHarrower, Tim | |
| 700 | 1 | _aDawidek, Gervase | |
| 700 | 1 | _aTurnbull, Douglass M | |
| 700 | 1 | _aTaylor, Robert W | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 13 _gno. 5 _gp. 623-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5201363 _zAvailable from publisher's website |
| 999 |
_c15336688 _d15336688 |
||