Genetics and epigenetics of repeat derepression in human disease
Peter Thijssen| 01-09-2016 | Genetics and epigenetics of repeat derepression in human disease A large part of the human genome consists of repetitive DNA. In this thesis two human diseases have been studied in which deregulation of repetitive DNA is a central feature: facioscapulohumeral muscular dystrophy (FSHD) and immunodeficiency, centromere instability and facial anomalies [...]