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Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.

Human molecular genetics - 6 Mar 2023

Ruiz de Sabando Ainara, Urrutia Lafuente Edurne, Galbete Arkaitz, Ciosi Marc, García Amigot Fermín, García Solaesa Virginia, Monckton Darren G, Ramos-Arroyo Maria A

Abstract excerpt

We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene in a nationwide cohort of population-based controls (n = 520) and families with symptomatic individuals referred for HD genetic testing. This group included 331 HD cases and 140 carriers of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 36130218
DOI: 10.1093/hmg/ddac224
PMCID: PMC9990985

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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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