| 000 | 01554 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516221941.0 | ||
| 264 | 0 | _c20151029 | |
| 008 | 201510s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddu339 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLópez-Gallardo, Ester | |
| 245 | 0 | 0 |
_aExpanding the clinical phenotypes of MT-ATP6 mutations. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cDec 2014 |
||
| 300 |
_a6191-200 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeigh Disease _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Myopathies _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Proton-Translocating ATPases _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 700 | 1 | _aEmperador, Sonia | |
| 700 | 1 | _aSolano, Abelardo | |
| 700 | 1 | _aLlobet, Laura | |
| 700 | 1 | _aMartín-Navarro, Antonio | |
| 700 | 1 | _aLópez-Pérez, Manuel José | |
| 700 | 1 | _aBriones, Paz | |
| 700 | 1 | _aPineda, Mercedes | |
| 700 | 1 | _aArtuch, Rafael | |
| 700 | 1 | _aBarraquer, Elena | |
| 700 | 1 | _aJericó, Ivonne | |
| 700 | 1 | _aRuiz-Pesini, Eduardo | |
| 700 | 1 | _aMontoya, Julio | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 23 _gno. 23 _gp. 6191-200 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddu339 _zAvailable from publisher's website |
| 999 |
_c23973920 _d23973920 |
||