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

BACKGROUND: 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 s...

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Detalles Bibliográficos
Autores principales: Yeh, Connie Y, Goldstein, Orly, Kukekova, Anna V, Holley, Debbie, Knollinger, Amy M, Huson, Heather J, Pearce-Kelling, Susan E, Acland, Gregory M, Komáromy, András M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639114/
https://www.ncbi.nlm.nih.gov/pubmed/23601474
http://dx.doi.org/10.1186/1471-2156-14-27

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