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Article

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia.

International journal of molecular sciences - 10 Nov 2023

Ahmad Mostapha, Ríos-Anillo Margarita R, Acosta-López Johan E, Cervantes-Henríquez Martha L, Martínez-Banfi Martha, Pineda-Alhucema Wilmar, Puentes-Rozo Pedro, Sánchez-Barros Cristian, Pinzón Andrés, Patel Hardip R, Vélez Jorge I, Villarreal-Camacho José Luis, Pineda David A, Arcos-Burgos Mauricio, Sánchez-Rojas Manuel

Abstract excerpt

Huntington's disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene. Juan de Acosta, Atlántico, a city located on the Caribbean coast of Colombia, is home to the world's second-largest HD pedigree. Here, we include 291 descendants of this pedigree with at least one family member with HD. Blood samples were collected, and genomic DNA was extracted. We quantified the...

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Identifiers

PMID: 38003344
DOI: 10.3390/ijms242216154
PMCID: PMC10671691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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