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Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression
The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in huma...
Autores principales: | Vlangos, Christopher N., Siuniak, Amanda N., Robinson, Dan, Chinnaiyan, Arul M., Lyons, Robert H., Cavalcoli, James D., Keegan, Catherine E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578742/ https://www.ncbi.nlm.nih.gov/pubmed/23437000 http://dx.doi.org/10.1371/journal.pgen.1003205 |
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