Article
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Human mutation - 1 Nov 2017
Mayer Anja K, Van Cauwenbergh Caroline, Rother Christine, Baumann Britta, Reuter Peggy, De Baere Elfride, Wissinger Bernd, Kohl Susanne
Abstract excerpt
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, involved in the unfolded protein response. CNGB3 encoding the beta subunit of the cyclic...
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