Listar Artículos de revista DCS - OZS Aldizkari artikuluak por autor "Urrutia Lafuente, Edurne"
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Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease
Ruiz de Sabando, Ainara; Urrutia Lafuente, Edurne; Galbete Jiménez, Arkaitz ; Ciosi, Marc; García Amigot, Fermín; García Solaesa, Virginia; Monckton, Darren G.; Ramos Arroyo, María A. (Oxford University Press, 2023) Artículo / ArtikuluaWe 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 ...