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Article

Population-specific genetic modification of Huntington's disease in Venezuela.

PLoS genetics - 1 May 2018

Chao Michael J, Kim Kyung-Hee, Shin Jun Wan, Lucente Diane, Wheeler Vanessa C, Li Hong, Roach Jared C, Hood Leroy, Wexler Nancy S, Jardim Laura B, Holmans Peter, Jones Lesley, Orth Michael, Kwak Seung, MacDonald Marcy E, Gusella James F, Lee Jong-Min

Abstract excerpt

Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset in Europeans. Here, we performed whole genome sequencing and GWA analysis of a Venezuelan HD cluster whose families were crucial for the original mapping of the HD gene defect. The Venezuelan HD...

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Identifiers

PMID: 29750799
DOI: 10.1371/journal.pgen.1007274
PMCID: PMC5965898

Genes

SOSTDC1
HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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