| 000 | 01656 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517035701.0 | ||
| 264 | 0 | _c20160531 | |
| 008 | 201605s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddv229 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSawyer, Sarah L | |
| 245 | 0 | 0 |
_aHomozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cSep 2015 |
||
| 300 |
_a5109-14 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 |
_aGTP Phosphohydrolases _xgenetics |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLipomatosis, Multiple Symmetrical _xcomplications |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNervous System Diseases _xetiology |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aCheuk-Him Ng, Andy | |
| 700 | 1 | _aInnes, A Micheil | |
| 700 | 1 | _aWagner, Justin D | |
| 700 | 1 | _aDyment, David A | |
| 700 | 1 | _aTetreault, Martine | |
| 700 | 1 | _aMajewski, Jacek | |
| 700 | 1 | _aBoycott, Kym M | |
| 700 | 1 | _aScreaton, Robert A | |
| 700 | 1 | _aNicholson, Garth | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 24 _gno. 18 _gp. 5109-14 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddv229 _zAvailable from publisher's website |
| 999 |
_c24992680 _d24992680 |
||