| 000 | 01565 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516141337.0 | ||
| 264 | 0 | _c20140715 | |
| 008 | 201407s 0 0 eng d | ||
| 022 | _a1872-8278 | ||
| 024 | 7 |
_a10.1016/j.mito.2013.03.002 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNeeve, Vivienne C M | |
| 245 | 0 | 0 |
_aClinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. _h[electronic resource] |
| 260 |
_bMitochondrion _cNov 2013 |
||
| 300 |
_a743-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBlotting, Northern |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Primers |
| 650 | 0 | 4 |
_aElectron Transport _xgenetics |
| 650 | 0 | 4 | _aElectrophoresis, Polyacrylamide Gel |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aPyle, Angela | |
| 700 | 1 | _aBoczonadi, Veronika | |
| 700 | 1 | _aGomez-Duran, Aurora | |
| 700 | 1 | _aGriffin, Helen | |
| 700 | 1 | _aSantibanez-Koref, Mauro | |
| 700 | 1 | _aGaiser, Ulrike | |
| 700 | 1 | _aBauer, Peter | |
| 700 | 1 | _aTzschach, Andreas | |
| 700 | 1 | _aChinnery, Patrick F | |
| 700 | 1 | _aHorvath, Rita | |
| 773 | 0 |
_tMitochondrion _gvol. 13 _gno. 6 _gp. 743-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.mito.2013.03.002 _zAvailable from publisher's website |
| 999 |
_c22588599 _d22588599 |
||