000 02032 a2200637 4500
005 20250516150223.0
264 0 _c20130705
008 201307s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2013.03.024
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aPingault, Veronique
245 0 0 _aLoss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cMay 2013
300 _a707-24 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDeafness
_xgenetics
650 0 4 _aFemale
650 0 4 _aFrance
650 0 4 _aGalactosides
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aHeLa Cells
650 0 4 _aHumans
650 0 4 _aIndoles
650 0 4 _aKallmann Syndrome
_xgenetics
650 0 4 _aMale
650 0 4 _aMice
650 0 4 _aMutation
_xgenetics
650 0 4 _aNeuroglia
_xpathology
650 0 4 _aOlfactory Pathways
_xpathology
650 0 4 _aPlasmids
_xgenetics
650 0 4 _aSOXE Transcription Factors
_xgenetics
700 1 _aBodereau, Virginie
700 1 _aBaral, Viviane
700 1 _aMarcos, Severine
700 1 _aWatanabe, Yuli
700 1 _aChaoui, Asma
700 1 _aFouveaut, Corinne
700 1 _aLeroy, Chrystel
700 1 _aVérier-Mine, Odile
700 1 _aFrancannet, Christine
700 1 _aDupin-Deguine, Delphine
700 1 _aArchambeaud, Françoise
700 1 _aKurtz, François-Joseph
700 1 _aYoung, Jacques
700 1 _aBertherat, Jérôme
700 1 _aMarlin, Sandrine
700 1 _aGoossens, Michel
700 1 _aHardelin, Jean-Pierre
700 1 _aDodé, Catherine
700 1 _aBondurand, Nadege
773 0 _tAmerican journal of human genetics
_gvol. 92
_gno. 5
_gp. 707-24
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2013.03.024
_zAvailable from publisher's website
999 _c22723630
_d22723630