| 000 | 01599 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250517010519.0 | ||
| 264 | 0 | _c20160113 | |
| 008 | 201601s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddu728 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVadrot, Nathalie | |
| 245 | 0 | 0 |
_aThe p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cApr 2015 |
||
| 300 |
_a2096-109 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLamin Type A _xgenetics |
| 650 | 0 | 4 |
_aLipodystrophy, Familial Partial _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aProtein Binding |
| 650 | 0 | 4 |
_aSterol Regulatory Element Binding Protein 1 _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aDuband-Goulet, Isabelle | |
| 700 | 1 | _aCabet, Eva | |
| 700 | 1 | _aAttanda, Wikayatou | |
| 700 | 1 | _aBarateau, Alice | |
| 700 | 1 | _aVicart, Patrick | |
| 700 | 1 | _aGerbal, Fabien | |
| 700 | 1 | _aBriand, Nolwenn | |
| 700 | 1 | _aVigouroux, Corinne | |
| 700 | 1 | _aOldenburg, Anja R | |
| 700 | 1 | _aLund, Eivind G | |
| 700 | 1 | _aCollas, Philippe | |
| 700 | 1 | _aBuendia, Brigitte | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 24 _gno. 7 _gp. 2096-109 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddu728 _zAvailable from publisher's website |
| 999 |
_c24473222 _d24473222 |
||