000 | 02197 a2200697 4500 | ||
---|---|---|---|
005 | 20250515193644.0 | ||
264 | 0 | _c20091222 | |
008 | 200912s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2009.10.013 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aAudo, Isabelle | |
245 | 0 | 0 |
_aTRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cNov 2009 |
||
300 |
_a720-9 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aElectroretinography |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenes, Recessive |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aModels, Genetic |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNight Blindness _xcongenital |
650 | 0 | 4 | _aNuclear Family |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aTRPM Cation Channels _xgenetics |
700 | 1 | _aKohl, Susanne | |
700 | 1 | _aLeroy, Bart P | |
700 | 1 | _aMunier, Francis L | |
700 | 1 | _aGuillonneau, Xavier | |
700 | 1 | _aMohand-Saïd, Saddek | |
700 | 1 | _aBujakowska, Kinga | |
700 | 1 | _aNandrot, Emeline F | |
700 | 1 | _aLorenz, Birgit | |
700 | 1 | _aPreising, Markus | |
700 | 1 | _aKellner, Ulrich | |
700 | 1 | _aRenner, Agnes B | |
700 | 1 | _aBernd, Antje | |
700 | 1 | _aAntonio, Aline | |
700 | 1 | _aMoskova-Doumanova, Veselina | |
700 | 1 | _aLancelot, Marie-Elise | |
700 | 1 | _aPoloschek, Charlotte M | |
700 | 1 | _aDrumare, Isabelle | |
700 | 1 | _aDefoort-Dhellemmes, Sabine | |
700 | 1 | _aWissinger, Bernd | |
700 | 1 | _aLéveillard, Thierry | |
700 | 1 | _aHamel, Christian P | |
700 | 1 | _aSchorderet, Daniel F | |
700 | 1 | _aDe Baere, Elfride | |
700 | 1 | _aBerger, Wolfgang | |
700 | 1 | _aJacobson, Samuel G | |
700 | 1 | _aZrenner, Eberhart | |
700 | 1 | _aSahel, José-Alain | |
700 | 1 | _aBhattacharya, Shomi S | |
700 | 1 | _aZeitz, Christina | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 85 _gno. 5 _gp. 720-9 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2009.10.013 _zAvailable from publisher's website |
999 |
_c19283823 _d19283823 |