Article
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
JAMA ophthalmology - 1 Aug 2016
Arno Gavin, Holder Graham E, Chakarova Christina, Kohl Susanne, Pontikos Nikolas, Fiorentino Alessia, Plagnol Vincent, Cheetham Michael E, Hardcastle Alison J, Webster Andrew R, Michaelides Michel
Abstract excerpt
IMPORTANCE: Mutations in phototransduction and retinal signaling genes are implicated in many retinopathies. To our knowledge, GNB3 encoding the G-protein β subunit 3 (Gβ3) has not previously been implicated in human disease. OBSERVATIONS: In this brief report, whole-exome sequencing was conducted on a patient with distinct inherited retinal disease presenting in childhood, with a phenotype characterized by...
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