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A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. (2020)

First Author: Beecroft SJ

Attributed to: The AAGGG repeat expansion in RFC1 associated with late-onset ataxia and sensory neuropathy: from genetic cause to defining the functional mechanism funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/brain/awaa203

PubMed Identifier: 32851396

Publication URI: http://europepmc.org/abstract/MED/32851396

Type: Journal Article/Review

Volume: 143

Parent Publication: Brain : a journal of neurology

Issue: 9

ISSN: 0006-8950