Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.
Titolo: | Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study | |
Autori: | ||
Data di pubblicazione: | 2017 | |
Rivista: | ||
Abstract: | Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. | |
Handle: | http://hdl.handle.net/11567/920745 | |
Appare nelle tipologie: | 01.01 - Articolo su rivista |
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