Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development

To investigate the genetic basis of hereditary lens opacities we analyzed 31 cases of bilateral congenital cataract in Red Holstein Friesian cattle. A genome-wide association study revealed a significant association on bovine chromosome 7 at positions 6,166,179 and 12,429,691. Whole genome re-sequen...

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Detalles Bibliográficos
Autores principales: Hollmann, Anne K., Dammann, Insa, Wemheuer, Wiebke M., Wemheuer, Wilhelm E., Chilla, Almuth, Tipold, Andrea, Schulz-Schaeffer, Walter J., Beck, Julia, Schütz, Ekkehard, Brenig, Bertram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500361/
https://www.ncbi.nlm.nih.gov/pubmed/28683140
http://dx.doi.org/10.1371/journal.pone.0180665

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500361/
https://www.ncbi.nlm.nih.gov/pubmed/28683140
http://dx.doi.org/10.1371/journal.pone.0180665

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