A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds

BACKGROUND: Domestication and artificial selection have resulted in strong genetic drift, relaxation of purifying selection and accumulation of deleterious mutations. As a consequence, bovine breeds experience regular outbreaks of recessive genetic defects which might represent only the tip of the i...

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Detalles Bibliográficos
Autores principales: Michot, Pauline, Chahory, Sabine, Marete, Andrew, Grohs, Cécile, Dagios, Dimitri, Donzel, Elise, Aboukadiri, Abdelhak, Deloche, Marie-Christine, Allais-Bonnet, Aurélie, Chambrial, Matthieu, Barbey, Sarah, Genestout, Lucie, Boussaha, Mekki, Danchin-Burge, Coralie, Fritz, Sébastien, Boichard, Didier, Capitan, Aurélien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980790/
https://www.ncbi.nlm.nih.gov/pubmed/27510606
http://dx.doi.org/10.1186/s12711-016-0232-y

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