000 | 02184 a2200625 4500 | ||
---|---|---|---|
005 | 20250516175553.0 | ||
264 | 0 | _c20150206 | |
008 | 201502s 0 0 eng d | ||
022 | _a1476-5438 | ||
024 | 7 |
_a10.1038/ejhg.2013.243 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aPiton, Amélie | |
245 | 0 | 0 |
_a20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. _h[electronic resource] |
260 |
_bEuropean journal of human genetics : EJHG _cJun 2014 |
||
300 |
_a776-83 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 |
_aAttention Deficit and Disruptive Behavior Disorders _xgenetics |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 |
_aChild Development Disorders, Pervasive _xgenetics |
650 | 0 | 4 | _aFamily Health |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
650 | 0 | 4 |
_aHigh-Throughput Nucleotide Sequencing _xmethods |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aModels, Molecular |
650 | 0 | 4 |
_aMonoamine Oxidase _xchemistry |
650 | 0 | 4 | _aMutation, Missense |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aProtein Structure, Tertiary |
700 | 1 | _aPoquet, Hélène | |
700 | 1 | _aRedin, Claire | |
700 | 1 | _aMasurel, Alice | |
700 | 1 | _aLauer, Julia | |
700 | 1 | _aMuller, Jean | |
700 | 1 | _aThevenon, Julien | |
700 | 1 | _aHerenger, Yvan | |
700 | 1 | _aChancenotte, Sophie | |
700 | 1 | _aBonnet, Marlène | |
700 | 1 | _aPinoit, Jean-Michel | |
700 | 1 | _aHuet, Frédéric | |
700 | 1 | _aThauvin-Robinet, Christel | |
700 | 1 | _aJaeger, Anne-Sophie | |
700 | 1 | _aLe Gras, Stéphanie | |
700 | 1 | _aJost, Bernard | |
700 | 1 | _aGérard, Bénédicte | |
700 | 1 | _aPeoc'h, Katell | |
700 | 1 | _aLaunay, Jean-Marie | |
700 | 1 | _aFaivre, Laurence | |
700 | 1 | _aMandel, Jean-Louis | |
773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 22 _gno. 6 _gp. 776-83 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2013.243 _zAvailable from publisher's website |
999 |
_c23211013 _d23211013 |