Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. [electronic resource]
Producer: 20170515Description: 1011-1019 p. digitalISSN:- 1537-6605
- 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
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Publication Type: Journal Article
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