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Heterozygosity for a Hypomorphic Polβ Mutation Reduces the Expansion Frequency in a Mouse Model of the Fragile X-Related Disorders

The Fragile X-related disorders (FXDs) are members of the Repeat Expansion Diseases, a group of human genetic conditions resulting from expansion of a specific tandem repeat. The FXDs result from expansion of a CGG/CCG repeat tract in the 5’ UTR of the FMR1 gene. While expansion in a FXD mouse model...

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Detalles Bibliográficos
Autores principales: Lokanga, Rachel Adihe, Senejani, Alireza Ghodsi, Sweasy, Joann Balazs, Usdin, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401650/
https://www.ncbi.nlm.nih.gov/pubmed/25886163
http://dx.doi.org/10.1371/journal.pgen.1005181