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Article

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.

Journal of human genetics - 1 Mar 2014

Veneziano Liana, Mantuano Elide, Catalli Claudio, Gellera Cinzia, Durr Alexandra, Romano Silvia, Spadaro Maria, Frontali Marina, Novelletto Andrea

Abstract excerpt

To clarify the population history of dentatorubropallidoluysian atrophy (DRPLA) in Italy and to date back the introduction of the mutation, we reconstructed extended haplotypes flanking the CAG repeat in 10 patients of Italian ancestry, analyzing their similarity/dissimilarity as a function of distance from the CAG repeat. Our aim was to compare the hypothesis of a single, recent genealogy connecting all the...

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Source

Identifiers

PMID: 24401908
DOI: 10.1038/jhg.2013.137

Genes

ATN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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