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