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