Article
Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene.
PloS one - 1 Jan 2015
Valcárcel-Ocete Leire, Alkorta-Aranburu Gorka, Iriondo Mikel, Fullaondo Asier, García-Barcina María, Fernández-García José Manuel, Lezcano-García Elena, Losada-Domingo José María, Ruiz-Ojeda Javier, Álvarez de Arcaya Amaia, Pérez-Ramos José María, Roos Raymund A C, Nielsen Jørgen E, Saft Carsten, Zubiaga Ana M, Aguirre Ana
Abstract excerpt
Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the...
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