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Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population.

Neuro-degenerative diseases - 1 Jan 2022

Ramírez-García Miguel Ángel, Dávila-Ortiz de Montellano David José, Martínez-Ruano Leticia, Ochoa-Morales Adriana, Romero-Hidalgo Sandra, Zenteno Juan Carlos, Yescas-Gómez Petra

Abstract excerpt

INTRODUCTION: There are reports of different clinical statuses in carriers of intermediate alleles (IAs) of CAG trinucleotide repeats in the HTT gene, from individuals affected by a clinical picture indistinguishable from Huntington's disease (HD) to those without manifestations. Therefore, the possible clinical significance of these alleles has been widely debated. OBJECTIVES: The aim of this study was to...

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PMID: 35926480
DOI: 10.1159/000526260

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