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De Novo Exon Duplication in a New Allele of Mouse Glra1 (Spasmodic)

The novel neurological mutant Cincinatti arose by genomic duplication of exon 5 in the glycine receptor gene Glra1. The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication event...

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Detalhes bibliográficos
Main Authors: Holland, Katherine D., Fleming, Michelle T., Cheek, Susannah, Moran, Jennifer L., Beier, David R., Meisler, Miriam H.
Formato: Artigo
Idioma:Inglês
Publicado em: Copyright © 2006 by the Genetics Society of America 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698620/
https://ncbi.nlm.nih.gov/pubmed/17028313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.106.065532
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