000 | 02051 a2200649 4500 | ||
---|---|---|---|
005 | 20250517091147.0 | ||
264 | 0 | _c20170515 | |
008 | 201705s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2016.03.021 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aVincent, Ajoy | |
245 | 0 | 0 |
_aBiallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _c05 2016 |
||
300 |
_a1011-1019 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 | _aCase-Control Studies |
650 | 0 | 4 | _aElectroretinography |
650 | 0 | 4 |
_aEye Diseases, Hereditary _xetiology |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xetiology |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 |
_aHeterotrimeric GTP-Binding Proteins _xchemistry |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMice |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aMyopia _xetiology |
650 | 0 | 4 |
_aNight Blindness _xetiology |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aProtein Conformation |
650 | 0 | 4 | _aSequence Homology, Amino Acid |
650 | 0 | 4 |
_aVisual Acuity _xgenetics |
700 | 1 | _aAudo, Isabelle | |
700 | 1 | _aTavares, Erika | |
700 | 1 | _aMaynes, Jason T | |
700 | 1 | _aTumber, Anupreet | |
700 | 1 | _aWright, Thomas | |
700 | 1 | _aLi, Shuning | |
700 | 1 | _aMichiels, Christelle | |
700 | 1 | _aCondroyer, Christel | |
700 | 1 | _aMacDonald, Heather | |
700 | 1 | _aVerdet, Robert | |
700 | 1 | _aSahel, José-Alain | |
700 | 1 | _aHamel, Christian P | |
700 | 1 | _aZeitz, Christina | |
700 | 1 | _aHéon, Elise | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 98 _gno. 5 _gp. 1011-1019 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2016.03.021 _zAvailable from publisher's website |
999 |
_c25910745 _d25910745 |