| 000 | 01713 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517094547.0 | ||
| 264 | 0 | _c20170210 | |
| 008 | 201702s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2016.05.005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBarøy, Tuva | |
| 245 | 0 | 0 |
_aA novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cJun 2016 |
||
| 300 |
_a342-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 |
_aF-Box Proteins _xgenetics |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Encephalomyopathies _xepidemiology |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xpathology |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNorway _xepidemiology |
| 650 | 0 | 4 |
_aUbiquitin-Protein Ligases _xgenetics |
| 700 | 1 | _aPedurupillay, Christeen Ramane J | |
| 700 | 1 | _aBliksrud, Yngve T | |
| 700 | 1 | _aRasmussen, Magnhild | |
| 700 | 1 | _aHolmgren, Asbjørn | |
| 700 | 1 | _aVigeland, Magnus D | |
| 700 | 1 | _aHughes, Timothy | |
| 700 | 1 | _aBrink, Maaike | |
| 700 | 1 | _aRodenburg, Richard | |
| 700 | 1 | _aNedregaard, Bård | |
| 700 | 1 | _aStrømme, Petter | |
| 700 | 1 | _aFrengen, Eirik | |
| 700 | 1 | _aMisceo, Doriana | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 59 _gno. 6-7 _gp. 342-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2016.05.005 _zAvailable from publisher's website |
| 999 |
_c26022305 _d26022305 |
||