Title : A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.

Pub. Date : 2020 Sep 1

PMID : 32851396






1 Functional Relationships(s)
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1 The genetic basis for a large proportion of Caucasian patients was recently shown to be the biallelic expansion of a pentanucleotide (AAGGG)n repeat in RFC1. pentanucleotide replication factor C subunit 1 Homo sapiens