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...

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Bibliographic Details
Main Authors: Rachel Adihe Lokanga, Alireza Ghodsi Senejani, Joann Balazs Sweasy, Karen Usdin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-04-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1005181
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