Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent, Ajoy

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. [electronic resource] - American journal of human genetics 05 2016 - 1011-1019 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2016.03.021 doi


Alleles
Amino Acid Sequence
Animals
Case-Control Studies
Electroretinography
Eye Diseases, Hereditary--etiology
Female
Genes, Recessive--genetics
Genetic Diseases, X-Linked--etiology
Genotype
Heterotrimeric GTP-Binding Proteins--chemistry
Homozygote
Humans
Male
Mice
Middle Aged
Mutation--genetics
Myopia--etiology
Night Blindness--etiology
Pedigree
Phenotype
Protein Conformation
Sequence Homology, Amino Acid
Visual Acuity--genetics