Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia

Abstract

Achromatopsia is an autosomal recessive disease characterized by the loss of cone photoreceptor function that results in day-blindness, total colorblindness, and decreased central visual acuity. The most common causes for the disease are mutations in the CNGB3 gene, coding for the beta subunit of the cyclic nucleotide-gated channels in cones. CNGB3… (More)
DOI: 10.1186/1471-2156-14-27

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