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Article

A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich's Ataxia.

Cell reports - 5 Sept 2017

McGinty Ryan J, Puleo Franco, Aksenova Anna Y, Hisey Julia A, Shishkin Alexander A, Pearson Erika L, Wang Eric T, Housman David E, Moore Claire, Mirkin Sergei M

Abstract excerpt

Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, including myotonic dystrophy and Friedreich's ataxia. Whereas the length of an expandable repeat is the main factor determining disease inheritance, recent data point to genomic trans modifiers that can impact the likelihood of expansions and disease progression. Detection of these modifiers may lead to understanding...

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Share to DNA Replication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28877480
DOI: 10.1016/j.celrep.2017.08.051
PMCID: PMC5658003

Genes

GAA

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