TY  - GEN
AU  - Vincent,Ajoy
AU  - Audo,Isabelle
AU  - Tavares,Erika
AU  - Maynes,Jason T
AU  - Tumber,Anupreet
AU  - Wright,Thomas
AU  - Li,Shuning
AU  - Michiels,Christelle
AU  - Condroyer,Christel
AU  - MacDonald,Heather
AU  - Verdet,Robert
AU  - Sahel,José-Alain
AU  - Hamel,Christian P
AU  - Zeitz,Christina
AU  - Héon,Elise
TI  - Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
SN  - 1537-6605
PY  - 2017///0515
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Animals
KW  - Case-Control Studies
KW  - Electroretinography
KW  - Eye Diseases, Hereditary
KW  - etiology
KW  - Female
KW  - Genes, Recessive
KW  - genetics
KW  - Genetic Diseases, X-Linked
KW  - Genotype
KW  - Heterotrimeric GTP-Binding Proteins
KW  - chemistry
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mice
KW  - Middle Aged
KW  - Mutation
KW  - Myopia
KW  - Night Blindness
KW  - Pedigree
KW  - Phenotype
KW  - Protein Conformation
KW  - Sequence Homology, Amino Acid
KW  - Visual Acuity
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ajhg.2016.03.021
ER  -