Article
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
Human molecular genetics - 1 Aug 2002
Sidjanin Duska J, Lowe Jennifer K, McElwee John L, Milne Bruce S, Phippen Taryn M, Sargan David R, Aguirre Gustavo D, Acland Gregory M, Ostrander Elaine A
Abstract excerpt
Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci. Both the canine disease and its human counterparts are characterized by day-blindness and absence of retinal cone function in...
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