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Investigation of the pathogenic <i>RFC1</i> repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations

2019-04-12

Abstract excerpt

A homozygous pentanucleotide expansion in the RFC1 gene has been shown to be a common cause of late-onset ataxia. In the general population a total of four different repeat conformations have been observed: a wild type sequence AAAAG (11 repeats), and longer expansions of AAAAG, AAAGG and AAGGG sequences. However, in ataxia cases only the AAGGG expansion has been shown to be pathogenic. In this study, we assessed...

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Identifiers and source

Literature Corpus work
9b3f37c2-5dc3-50b6-bd7c-ceb577772d5c
DOI
10.1101/593871
Open publication

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Investigation of the pathogenic <i>RFC1</i> repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformationsDOI 10.1101/593871
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